Canonical Allele Identifier: CA645604018
Gene: SLC35A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48904684_48904685insGAATACTATATGCAATTATAAAAAGCAACAAAGAAGGGGCCAGATGTGGTGGCTCACGCCTGTAATCCCAGCCCTTGGGGAGGCAGGGGCAGGTGGATGACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGCGGCTGAGGCAGGAGACTTGCTTGAACCCAGGAGGCGGAGGATGCAGTGAGCC , CM000685.2:g.48904684_48904685insGAATACTATATGCAATTATAAAAAGCAACAAAGAAGGGGCCAGATGTGGTGGCTCACGCCTGTAATCCCAGCCCTTGGGGAGGCAGGGGCAGGTGGATGACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGCGGCTGAGGCAGGAGACTTGCTTGAACCCAGGAGGCGGAGGATGCAGTGAGCC GRCh38
NC_000023.10:g.48761961_48761962insGAATACTATATGCAATTATAAAAAGCAACAAAGAAGGGGCCAGATGTGGTGGCTCACGCCTGTAATCCCAGCCCTTGGGGAGGCAGGGGCAGGTGGATGACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGCGGCTGAGGCAGGAGACTTGCTTGAACCCAGGAGGCGGAGGATGCAGTGAGCC , CM000685.1:g.48761961_48761962insGAATACTATATGCAATTATAAAAAGCAACAAAGAAGGGGCCAGATGTGGTGGCTCACGCCTGTAATCCCAGCCCTTGGGGAGGCAGGGGCAGGTGGATGACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGCGGCTGAGGCAGGAGACTTGCTTGAACCCAGGAGGCGGAGGATGCAGTGAGCC GRCh37
NC_000023.9:g.48646905_48646906insGAATACTATATGCAATTATAAAAAGCAACAAAGAAGGGGCCAGATGTGGTGGCTCACGCCTGTAATCCCAGCCCTTGGGGAGGCAGGGGCAGGTGGATGACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGCGGCTGAGGCAGGAGACTTGCTTGAACCCAGGAGGCGGAGGATGCAGTGAGCC NCBI36
NG_015967.1:g.11767_11768insGAATACTATATGCAATTATAAAAAGCAACAAAGAAGGGGCCAGATGTGGTGGCTCACGCCTGTAATCCCAGCCCTTGGGGAGGCAGGGGCAGGTGGATGACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGCGGCTGAGGCAGGAGACTTGCTTGAACCCAGGAGGCGGAGGATGCAGTGAGCC
NG_034300.1:g.12274_12275insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000247138.11:c.1163+61_1163+62insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC MANE Select ENSP00000247138.5:n.1163+61_1163+62insGGCTCACTGCATCCTCCGCCTCC...
ENST00000247138.10:c.1163+61_1163+62insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC ENSP00000247138.5:n.1163+61_1163+62insGGCTCACTGCATCCTCCGCCTCC...
ENST00000376515.8:c.562_563insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC ENSP00000365698.3:p.Val188GlyfsTer21
ENST00000376521.6:c.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC ENSP00000365704.1:n.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCA...
ENST00000376529.8:c.573+61_573+62insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC ENSP00000365712.3:n.573+61_573+62insGGCTCACTGCATCCTCCGCCTCCTG...
ENST00000413561.7:c.786_787insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC
ENST00000445167.7:c.634_635insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC ENSP00000402726.2:p.Val212GlyfsTer21
ENST00000452555.7:c.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC ENSP00000416002.2:n.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCA...
ENST00000616181.5:c.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC ENSP00000478617.1:n.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCA...
ENST00000635285.1:c.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC ENSP00000489484.1:n.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCA...
ENST00000635460.1:c.425-1220_425-1219insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC
ENST00000635589.1:c.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC ENSP00000489197.1:n.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCA...
ENST00000635628.1:c.*1118_*1119insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC ENSP00000489613.1:n.*1118_*1119insGGCTCACTGCATCCTCCGCCTCCTGGG...
NM_001032289.2:c.634_635insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC NP_001027460.1:p.Val212GlyfsTer21
NM_001042498.2:c.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC NP_001035963.1:n.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGC...
NM_001282647.1:c.573+61_573+62insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC NP_001269576.1:n.573+61_573+62insGGCTCACTGCATCCTCCGCCTCCTGGGT...
NM_001282648.1:c.562_563insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC NP_001269577.1:p.Val188GlyfsTer21
NM_001282649.1:c.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC NP_001269578.1:n.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGC...
NM_001282650.1:c.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC NP_001269579.1:n.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGC...
NM_001282651.1:c.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC NP_001269580.1:n.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGC...
NM_005660.2:c.1163+61_1163+62insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC NP_005651.1:n.1163+61_1163+62insGGCTCACTGCATCCTCCGCCTCCTGGGTT...
NM_005660.3:c.1163+61_1163+62insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC MANE Select NP_005651.1:n.1163+61_1163+62insGGCTCACTGCATCCTCCGCCTCCTGGGTT...
NM_001032289.3:c.634_635insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC NP_001027460.1:p.Val212GlyfsTer21
NM_001042498.3:c.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC NP_001035963.1:n.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGC...
NM_001282647.2:c.573+61_573+62insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC NP_001269576.1:n.573+61_573+62insGGCTCACTGCATCCTCCGCCTCCTGGGT...
NM_001282649.2:c.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC NP_001269578.1:n.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGC...
NM_001282650.2:c.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC NP_001269579.1:n.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGC...
NM_001282651.2:c.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC NP_001269580.1:n.*42_*43insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGC...
NM_001282648.2:c.562_563insGGCTCACTGCATCCTCCGCCTCCTGGGTTCAAGCAAGTCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTCATCCACCTGCCCCTGCCTCCCCAAGGGCTGGGATTACAGGCGTGAGCCACCACATCTGGCCCCTTCTTTGTTGCTTTTTATAATTGCATATAGTATTC NP_001269577.1:p.Val188GlyfsTer21