Canonical Allele Identifier: CA1206146616

Gene: F5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169552341_169552344delinsCTTG , CM000663.2:g.169552341_169552344delinsCTTG	GRCh38
NC_000001.10:g.169521579_169521582delinsCTTG , CM000663.1:g.169521579_169521582delinsCTTG	GRCh37
NC_000001.9:g.167788203_167788206delinsCTTG	NCBI36
NG_011806.1:g.39188_39191delinsCAAG , LRG_553:g.39188_39191delinsCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.1296+213_1296+216delinsCAAG MANE Select	ENSP00000356771.3:n.1296+213_1296+216delinsCAAG
ENST00000367796.3:c.1296+213_1296+216delinsCAAG	ENSP00000356770.3:n.1296+213_1296+216delinsCAAG
ENST00000367797.7:c.1296+213_1296+216delinsCAAG	ENSP00000356771.3:n.1296+213_1296+216delinsCAAG
NM_000130.4:c.1296+213_1296+216delinsCAAG , LRG_553t1:c.1296+213_1296+216delinsCAAG	NP_000121.2:n.1296+213_1296+216delinsCAAG
XM_017000660.2:c.885+213_885+216delinsCAAG	XP_016856149.1:n.885+213_885+216delinsCAAG
NM_000130.5:c.1296+213_1296+216delinsCAAG MANE Select	NP_000121.2:n.1296+213_1296+216delinsCAAG