Canonical Allele Identifier: CA1607949736
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1760260059
gnomAD v4: 6-6145476-TG-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145479del , CM000668.2:g.6145479del GRCh38
NC_000006.11:g.6145712del , CM000668.1:g.6145712del GRCh37
NC_000006.10:g.6090711del NCBI36
NG_008107.1:g.180215del , LRG_549:g.180215del

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.*142del MANE Select ENSP00000264870.3:n.*142del
ENST00000264870.7:c.*142del ENSP00000264870.3:n.*142del
NM_000129.3:c.*142del , LRG_549t1:c.*142del NP_000120.2:n.*142del
XM_006715010.2:c.*142del XP_006715073.1:n.*142del
XM_011514342.1:c.*142del XP_011512644.1:n.*142del
NM_000129.4:c.*142del MANE Select NP_000120.2:n.*142del