Canonical Allele Identifier: CA2695205941
Gene: F13A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224800_6224801insCCC , CM000668.2:g.6224800_6224801insCCC GRCh38
NC_000006.11:g.6225033_6225034insCCC , CM000668.1:g.6225033_6225034insCCC GRCh37
NC_000006.10:g.6170032_6170033insCCC NCBI36
NG_008107.1:g.100893_100894insGGG , LRG_549:g.100893_100894insGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.860_861insGGG MANE Select ENSP00000264870.3:p.Gly287_Val288insGly
ENST00000264870.7:c.860_861insGGG ENSP00000264870.3:p.Gly287_Val288insGly
ENST00000445223.1:c.10_11insGGG
NM_000129.3:c.860_861insGGG , LRG_549t1:c.860_861insGGG NP_000120.2:p.Gly287_Val288insGly
XM_006715010.2:c.860_861insGGG XP_006715073.1:p.Gly287_Val288insGly
XM_011514342.1:c.1022_1023insGGG XP_011512644.1:p.Gly341_Val342insGly
NM_000129.4:c.860_861insGGG MANE Select NP_000120.2:p.Gly287_Val288insGly