Canonical Allele Identifier: CA1234399

Gene: F5

Linked Data

• dbSNP Id: rs759086527
• ExAC: 1:169521927 TC / T
• gnomAD v2: 1-169521927-TC-T
• MyVariant Identifiers: chr1:g.169521928del (hg19) ; chr1:g.169552690del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169552691del , CM000663.2:g.169552691del	GRCh38
NC_000001.10:g.169521929del , CM000663.1:g.169521929del	GRCh37
NC_000001.9:g.167788553del	NCBI36
NG_011806.1:g.38842del , LRG_553:g.38842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.1163del MANE Select	ENSP00000356771.3:p.Gly388GlufsTer22
ENST00000367796.3:c.1163del	ENSP00000356770.3:p.Gly388GlufsTer22
ENST00000367797.7:c.1163del	ENSP00000356771.3:p.Gly388GlufsTer22
NM_000130.4:c.1163del , LRG_553t1:c.1163del	NP_000121.2:p.Gly388GlufsTer22
XM_017000660.2:c.752del	XP_016856149.1:p.Gly251GlufsTer22
NM_000130.5:c.1163del MANE Select	NP_000121.2:p.Gly388GlufsTer22