Canonical Allele Identifier: CA5967227

Gene: F2

Linked Data

• ExAC: 11:46749716 A / ACGAGCGAAACATTGAAAAGATATC
• MyVariant Identifiers: chr11:g.46749716_46749717insCGAGCGAAACATTGAAAAGATATC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46728167_46728168insGAGCGAAACATTGAAAAGATATCC , CM000673.2:g.46728167_46728168insGAGCGAAACATTGAAAAGATATCC	GRCh38
NC_000011.9:g.46749717_46749718insGAGCGAAACATTGAAAAGATATCC , CM000673.1:g.46749717_46749718insGAGCGAAACATTGAAAAGATATCC	GRCh37
NC_000011.8:g.46706293_46706294insGAGCGAAACATTGAAAAGATATCC	NCBI36
NG_008953.1:g.13975_13976insGAGCGAAACATTGAAAAGATATCC , LRG_551:g.13975_13976insGAGCGAAACATTGAAAAGATATCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.1298+4_1298+5insGAGCGAAACATTGAAAAGATATCC MANE Select	ENSP00000308541.5:n.1298+4_1298+5insGAGCGAAACATTGAAAAGATATCC
ENST00000311907.9:c.1298+4_1298+5insGAGCGAAACATTGAAAAGATATCC	ENSP00000308541.5:n.1298+4_1298+5insGAGCGAAACATTGAAAAGATATCC
ENST00000530231.5:c.1298+4_1298+5insGAGCGAAACATTGAAAAGATATCC	ENSP00000433907.1:n.1298+4_1298+5insGAGCGAAACATTGAAAAGATATCC
NM_000506.3:c.1298+4_1298+5insGAGCGAAACATTGAAAAGATATCC	NP_000497.1:n.1298+4_1298+5insGAGCGAAACATTGAAAAGATATCC
NM_000506.4:c.1298+4_1298+5insGAGCGAAACATTGAAAAGATATCC , LRG_551t1:c.1298+4_1298+5insGAGCGAAACATTGAAAAGATATCC	NP_000497.1:n.1298+4_1298+5insGAGCGAAACATTGAAAAGATATCC
NM_001311257.1:c.1250+4_1250+5insGAGCGAAACATTGAAAAGATATCC	NP_001298186.1:n.1250+4_1250+5insGAGCGAAACATTGAAAAGATATCC
XR_428840.2:n.1342+4_1342+5insGAGCGAAACATTGAAAAGATATCC
XR_428840.4:n.1333+4_1333+5insGAGCGAAACATTGAAAAGATATCC
NM_000506.5:c.1298+4_1298+5insGAGCGAAACATTGAAAAGATATCC MANE Select	NP_000497.1:n.1298+4_1298+5insGAGCGAAACATTGAAAAGATATCC
NM_001311257.2:c.1250+4_1250+5insGAGCGAAACATTGAAAAGATATCC	NP_001298186.1:n.1250+4_1250+5insGAGCGAAACATTGAAAAGATATCC