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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.73682992_73682993insTGAAGGGGGTTCCTGGAGTCTCTAGGGTGCTTCTTCCAGAGTCTGTCTTCTTGCTTCCAGAT , CM000669.2:g.73682992_73682993insTGAAGGGGGTTCCTGGAGTCTCTAGGGTGCTTCTTCCAGAGTCTGTCTTCTTGCTTCCAGAT
GRCh38
NC_000007.13:g.73097322_73097323insTGAAGGGGGTTCCTGGAGTCTCTAGGGTGCTTCTTCCAGAGTCTGTCTTCTTGCTTCCAGAT , CM000669.1:g.73097322_73097323insTGAAGGGGGTTCCTGGAGTCTCTAGGGTGCTTCTTCCAGAGTCTGTCTTCTTGCTTCCAGAT
GRCh37
NC_000007.12:g.72735258_72735259insTGAAGGGGGTTCCTGGAGTCTCTAGGGTGCTTCTTCCAGAGTCTGTCTTCTTGCTTCCAGAT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000395176.3:c.431_432insATCTGGAAGCAAGAAGACAGACTCTGGAAGAAGCACCCTAGAGACTCCAGGAACCCCCTTCA
MANE Select
ENSP00000378605.1:p.Arg146GlyfsTer?
ENST00000395176.2:c.431_432insATCTGGAAGCAAGAAGACAGACTCTGGAAGAAGCACCCTAGAGACTCCAGGAACCCCCTTCA
ENSP00000378605.1:p.Arg146GlyfsTer?
NM_032317.2:c.431_432insATCTGGAAGCAAGAAGACAGACTCTGGAAGAAGCACCCTAGAGACTCCAGGAACCCCCTTCA
NP_115693.2:p.Arg146GlyfsTer?
NM_032317.3:c.431_432insATCTGGAAGCAAGAAGACAGACTCTGGAAGAAGCACCCTAGAGACTCCAGGAACCCCCTTCA
MANE Select
NP_115693.2:p.Arg146GlyfsTer?