Canonical Allele Identifier: CA2649035386

Gene: F5

Linked Data

• gnomAD v4: 1-169541861-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541863_169541864del , CM000663.2:g.169541863_169541864del	GRCh38
NC_000001.10:g.169511101_169511102del , CM000663.1:g.169511101_169511102del	GRCh37
NC_000001.9:g.167777725_167777726del	NCBI36
NG_011806.1:g.49669_49670del , LRG_553:g.49669_49670del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.3227_3228del MANE Select	ENSP00000356771.3:p.Thr1076IlefsTer23
ENST00000367796.3:c.3242_3243del	ENSP00000356770.3:p.Thr1081IlefsTer23
ENST00000367797.7:c.3227_3228del	ENSP00000356771.3:p.Thr1076IlefsTer23
NM_000130.4:c.3227_3228del , LRG_553t1:c.3227_3228del	NP_000121.2:p.Thr1076IlefsTer23
XM_017000660.2:c.2816_2817del	XP_016856149.1:p.Thr939IlefsTer23
NM_000130.5:c.3227_3228del MANE Select	NP_000121.2:p.Thr1076IlefsTer23