Canonical Allele Identifier: CA1008978378

Gene: F5

Linked Data

• dbSNP Id: rs1660192497
• gnomAD v3: 1-169552341-CTTG-C
• gnomAD v4: 1-169552341-CTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169552344_169552346del , CM000663.2:g.169552344_169552346del	GRCh38
NC_000001.10:g.169521582_169521584del , CM000663.1:g.169521582_169521584del	GRCh37
NC_000001.9:g.167788206_167788208del	NCBI36
NG_011806.1:g.39188_39190del , LRG_553:g.39188_39190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.1296+213_1296+215del MANE Select	ENSP00000356771.3:n.1296+213_1296+215del
ENST00000367796.3:c.1296+213_1296+215del	ENSP00000356770.3:n.1296+213_1296+215del
ENST00000367797.7:c.1296+213_1296+215del	ENSP00000356771.3:n.1296+213_1296+215del
NM_000130.4:c.1296+213_1296+215del , LRG_553t1:c.1296+213_1296+215del	NP_000121.2:n.1296+213_1296+215del
XM_017000660.2:c.885+213_885+215del	XP_016856149.1:n.885+213_885+215del
NM_000130.5:c.1296+213_1296+215del MANE Select	NP_000121.2:n.1296+213_1296+215del