Canonical Allele Identifier: CA3624369

Gene: F13A1

Linked Data

• dbSNP Id: rs753321105
• ExAC: 6:6182350 TAATGTA / T
• gnomAD v2: 6-6182350-TAATGTA-T
• gnomAD v4: 6-6182117-TAATGTA-T
• MyVariant Identifiers: chr6:g.6182351_6182356del (hg19) ; chr6:g.6182118_6182123del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6182122_6182127del , CM000668.2:g.6182122_6182127del	GRCh38
NC_000006.11:g.6182355_6182360del , CM000668.1:g.6182355_6182360del	GRCh37
NC_000006.10:g.6127354_6127359del	NCBI36
NG_008107.1:g.143569_143574del , LRG_549:g.143569_143574del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264870.8:c.1324_1329del MANE Select	ENSP00000264870.3:p.Tyr442_Ile443del
ENST00000264870.7:c.1324_1329del	ENSP00000264870.3:p.Tyr442_Ile443del
NM_000129.3:c.1324_1329del , LRG_549t1:c.1324_1329del	NP_000120.2:p.Tyr442_Ile443del
XM_006715010.2:c.1324_1329del	XP_006715073.1:p.Tyr442_Ile443del
XM_011514342.1:c.1486_1491del	XP_011512644.1:p.Tyr496_Ile497del
NM_000129.4:c.1324_1329del MANE Select	NP_000120.2:p.Tyr442_Ile443del