Canonical Allele Identifier: CA1607973420
Gene: F13A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182117_6182123delinsTAATGTA , CM000668.2:g.6182117_6182123delinsTAATGTA GRCh38
NC_000006.11:g.6182350_6182356delinsTAATGTA , CM000668.1:g.6182350_6182356delinsTAATGTA GRCh37
NC_000006.10:g.6127349_6127355delinsTAATGTA NCBI36
NG_008107.1:g.143569_143575delinsTACATTA , LRG_549:g.143569_143575delinsTACATTA

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.1324_1330delinsTACATTA MANE Select ENSP00000264870.3:p.Tyr442=
ENST00000264870.7:c.1324_1330delinsTACATTA ENSP00000264870.3:p.Tyr442=
NM_000129.3:c.1324_1330delinsTACATTA , LRG_549t1:c.1324_1330delinsTACATTA NP_000120.2:p.Tyr442=
XM_006715010.2:c.1324_1330delinsTACATTA XP_006715073.1:p.Tyr442=
XM_011514342.1:c.1486_1492delinsTACATTA XP_011512644.1:p.Tyr496=
NM_000129.4:c.1324_1330delinsTACATTA MANE Select NP_000120.2:p.Tyr442=
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