Canonical Allele Identifier: CA826771368

Gene: F13A1

Linked Data

• dbSNP Id: rs1309795410
• gnomAD v3: 6-6182223-C-CT
• gnomAD v4: 6-6182223-C-CT
• MyVariant Identifiers: chr6:g.6182456_6182457insT (hg19) ; chr6:g.6182223_6182224insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6182224dup , CM000668.2:g.6182224dup	GRCh38
NC_000006.11:g.6182457dup , CM000668.1:g.6182457dup	GRCh37
NC_000006.10:g.6127456dup	NCBI36
NG_008107.1:g.143468dup , LRG_549:g.143468dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.1306-83dup MANE Select	ENSP00000264870.3:n.1306-83dup
ENST00000264870.7:c.1306-83dup	ENSP00000264870.3:n.1306-83dup
NM_000129.3:c.1306-83dup , LRG_549t1:c.1306-83dup	NP_000120.2:n.1306-83dup
XM_006715010.2:c.1306-83dup	XP_006715073.1:n.1306-83dup
XM_011514342.1:c.1468-83dup	XP_011512644.1:n.1468-83dup
NM_000129.4:c.1306-83dup MANE Select	NP_000120.2:n.1306-83dup