Canonical Allele Identifier: CA527131302

Gene: F5

Linked Data

• dbSNP Id: rs1209628112
• gnomAD v2: 1-169521987-A-ACAC
• MyVariant Identifiers: chr1:g.169521987_169521988insCAC (hg19) ; chr1:g.169552749_169552750insCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169552749_169552750insCAC , CM000663.2:g.169552749_169552750insCAC	GRCh38
NC_000001.10:g.169521987_169521988insCAC , CM000663.1:g.169521987_169521988insCAC	GRCh37
NC_000001.9:g.167788611_167788612insCAC	NCBI36
NG_011806.1:g.38782_38783insGTG , LRG_553:g.38782_38783insGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.1119-16_1119-15insGTG MANE Select	ENSP00000356771.3:n.1119-16_1119-15insGTG
ENST00000367796.3:c.1119-16_1119-15insGTG	ENSP00000356770.3:n.1119-16_1119-15insGTG
ENST00000367797.7:c.1119-16_1119-15insGTG	ENSP00000356771.3:n.1119-16_1119-15insGTG
NM_000130.4:c.1119-16_1119-15insGTG , LRG_553t1:c.1119-16_1119-15insGTG	NP_000121.2:n.1119-16_1119-15insGTG
XM_017000660.2:c.708-16_708-15insGTG	XP_016856149.1:n.708-16_708-15insGTG
NM_000130.5:c.1119-16_1119-15insGTG MANE Select	NP_000121.2:n.1119-16_1119-15insGTG