Canonical Allele Identifier: CA1234414

Gene: F5

Linked Data

• dbSNP Id: rs777833517
• ExAC: 1:169521987 AAAAAAAATTAAAC / A
• MyVariant Identifiers: chr1:g.169521988_169522000del (hg19) ; chr1:g.169552750_169552762del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169552750_169552762del , CM000663.2:g.169552750_169552762del	GRCh38
NC_000001.10:g.169521988_169522000del , CM000663.1:g.169521988_169522000del	GRCh37
NC_000001.9:g.167788612_167788624del	NCBI36
NG_011806.1:g.38770_38782del , LRG_553:g.38770_38782del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.1119-28_1119-16del MANE Select	ENSP00000356771.3:n.1119-28_1119-16del
ENST00000367796.3:c.1119-28_1119-16del	ENSP00000356770.3:n.1119-28_1119-16del
ENST00000367797.7:c.1119-28_1119-16del	ENSP00000356771.3:n.1119-28_1119-16del
NM_000130.4:c.1119-28_1119-16del , LRG_553t1:c.1119-28_1119-16del	NP_000121.2:n.1119-28_1119-16del
XM_017000660.2:c.708-28_708-16del	XP_016856149.1:n.708-28_708-16del
NM_000130.5:c.1119-28_1119-16del MANE Select	NP_000121.2:n.1119-28_1119-16del