Canonical Allele Identifier: CA2521846397
Gene: AMER1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192332_64192333insTTGTGGAAGAGGTAATTCGCATAGGGTGATGAAGTATTCGATTTCTACGCGTACGCGATAGCGAATTAAAGCATACTCAGAGAAATAGTCGGCAAGACATTCGGTCTTACTTCTATAGCGACCGTCAATA , CM000685.2:g.64192332_64192333insTTGTGGAAGAGGTAATTCGCATAGGGTGATGAAGTATTCGATTTCTACGCGTACGCGATAGCGAATTAAAGCATACTCAGAGAAATAGTCGGCAAGACATTCGGTCTTACTTCTATAGCGACCGTCAATA GRCh38
NC_000023.10:g.63412212_63412213insTTGTGGAAGAGGTAATTCGCATAGGGTGATGAAGTATTCGATTTCTACGCGTACGCGATAGCGAATTAAAGCATACTCAGAGAAATAGTCGGCAAGACATTCGGTCTTACTTCTATAGCGACCGTCAATA , CM000685.1:g.63412212_63412213insTTGTGGAAGAGGTAATTCGCATAGGGTGATGAAGTATTCGATTTCTACGCGTACGCGATAGCGAATTAAAGCATACTCAGAGAAATAGTCGGCAAGACATTCGGTCTTACTTCTATAGCGACCGTCAATA GRCh37
NC_000023.9:g.63328937_63328938insTTGTGGAAGAGGTAATTCGCATAGGGTGATGAAGTATTCGATTTCTACGCGTACGCGATAGCGAATTAAAGCATACTCAGAGAAATAGTCGGCAAGACATTCGGTCTTACTTCTATAGCGACCGTCAATA NCBI36
NG_021345.1:g.18412_18413insTATTGACGGTCGCTATAGAAGTAAGACCGAATGTCTTGCCGACTATTTCTCTGAGTATGCTTTAATTCGCTATCGCGTACGCGTAGAAATCGAATACTTCATCACCCTATGCGAATTACCTCTTCCACAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.954_955insTATTGACGGTCGCTATAGAAGTAAGACCGAATGTCTTGCCGACTATTTCTCTGAGTATGCTTTAATTCGCTATCGCGTACGCGTAGAAATCGAATACTTCATCACCCTATGCGAATTACCTCTTCCACAA MANE Select ENSP00000364003.4:p.Leu319TyrfsTer2
ENST00000330258.3:c.954_955insTATTGACGGTCGCTATAGAAGTAAGACCGAATGTCTTGCCGACTATTTCTCTGAGTATGCTTTAATTCGCTATCGCGTACGCGTAGAAATCGAATACTTCATCACCCTATGCGAATTACCTCTTCCACAA ENSP00000329117.3:p.Leu319TyrfsTer2
ENST00000374869.7:c.954_955insTATTGACGGTCGCTATAGAAGTAAGACCGAATGTCTTGCCGACTATTTCTCTGAGTATGCTTTAATTCGCTATCGCGTACGCGTAGAAATCGAATACTTCATCACCCTATGCGAATTACCTCTTCCACAA ENSP00000364003.3:p.Leu319TyrfsTer2
NM_152424.3:c.954_955insTATTGACGGTCGCTATAGAAGTAAGACCGAATGTCTTGCCGACTATTTCTCTGAGTATGCTTTAATTCGCTATCGCGTACGCGTAGAAATCGAATACTTCATCACCCTATGCGAATTACCTCTTCCACAA NP_689637.3:p.Leu319TyrfsTer2
XM_011530858.1:c.954_955insTATTGACGGTCGCTATAGAAGTAAGACCGAATGTCTTGCCGACTATTTCTCTGAGTATGCTTTAATTCGCTATCGCGTACGCGTAGAAATCGAATACTTCATCACCCTATGCGAATTACCTCTTCCACAA XP_011529160.1:p.Leu319TyrfsTer2
NM_152424.4:c.954_955insTATTGACGGTCGCTATAGAAGTAAGACCGAATGTCTTGCCGACTATTTCTCTGAGTATGCTTTAATTCGCTATCGCGTACGCGTAGAAATCGAATACTTCATCACCCTATGCGAATTACCTCTTCCACAA MANE Select NP_689637.3:p.Leu319TyrfsTer2
Search 100 bp 5'
Search 100 bp 3'