Canonical Allele Identifier: CA2677189064
Gene: F13A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145066_6145067del , CM000668.2:g.6145066_6145067del GRCh38
NC_000006.11:g.6145299_6145300del , CM000668.1:g.6145299_6145300del GRCh37
NC_000006.10:g.6090298_6090299del NCBI36
NG_008107.1:g.180625_180626del , LRG_549:g.180625_180626del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*552_*553del MANE Select ENSP00000264870.3:n.*552_*553del
ENST00000264870.7:c.*552_*553del ENSP00000264870.3:n.*552_*553del
NM_000129.3:c.*552_*553del , LRG_549t1:c.*552_*553del NP_000120.2:n.*552_*553del
XM_006715010.2:c.*552_*553del XP_006715073.1:n.*552_*553del
XM_011514342.1:c.*552_*553del XP_011512644.1:n.*552_*553del
NM_000129.4:c.*552_*553del MANE Select NP_000120.2:n.*552_*553del