Canonical Allele Identifier: CA1144223823

Gene: F5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169552313_169552315delinsCCG , CM000663.2:g.169552313_169552315delinsCCG	GRCh38
NC_000001.10:g.169521551_169521553delinsCCG , CM000663.1:g.169521551_169521553delinsCCG	GRCh37
NC_000001.9:g.167788175_167788177delinsCCG	NCBI36
NG_011806.1:g.39217_39219delinsCGG , LRG_553:g.39217_39219delinsCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.1296+242_1296+244delinsCGG MANE Select	ENSP00000356771.3:n.1296+242_1296+244delinsCGG
ENST00000367796.3:c.1296+242_1296+244delinsCGG	ENSP00000356770.3:n.1296+242_1296+244delinsCGG
ENST00000367797.7:c.1296+242_1296+244delinsCGG	ENSP00000356771.3:n.1296+242_1296+244delinsCGG
NM_000130.4:c.1296+242_1296+244delinsCGG , LRG_553t1:c.1296+242_1296+244delinsCGG	NP_000121.2:n.1296+242_1296+244delinsCGG
XM_017000660.2:c.885+242_885+244delinsCGG	XP_016856149.1:n.885+242_885+244delinsCGG
NM_000130.5:c.1296+242_1296+244delinsCGG MANE Select	NP_000121.2:n.1296+242_1296+244delinsCGG