Canonical Allele Identifier: CA826771355

Gene: F13A1

Linked Data

• dbSNP Id: rs1179976209
• gnomAD v4: 6-6182200-TTAAC-T
• MyVariant Identifiers: chr6:g.6182434_6182437del (hg19) ; chr6:g.6182201_6182204del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6182202_6182205del , CM000668.2:g.6182202_6182205del	GRCh38
NC_000006.11:g.6182435_6182438del , CM000668.1:g.6182435_6182438del	GRCh37
NC_000006.10:g.6127434_6127437del	NCBI36
NG_008107.1:g.143488_143491del , LRG_549:g.143488_143491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.1306-63_1306-60del MANE Select	ENSP00000264870.3:n.1306-63_1306-60del
ENST00000264870.7:c.1306-63_1306-60del	ENSP00000264870.3:n.1306-63_1306-60del
NM_000129.3:c.1306-63_1306-60del , LRG_549t1:c.1306-63_1306-60del	NP_000120.2:n.1306-63_1306-60del
XM_006715010.2:c.1306-63_1306-60del	XP_006715073.1:n.1306-63_1306-60del
XM_011514342.1:c.1468-63_1468-60del	XP_011512644.1:n.1468-63_1468-60del
NM_000129.4:c.1306-63_1306-60del MANE Select	NP_000120.2:n.1306-63_1306-60del