Canonical Allele Identifier: CA5967073

Gene: F2

Linked Data

• dbSNP Id: rs749131699
• ExAC: 11:46747727 A / AGGAGGAGACAGGAGATGG
• gnomAD v2: 11-46747727-A-AGGAGGAGACAGGAGATGG
• gnomAD v4: 11-46726177-A-AGGAGGAGACAGGAGATGG
• MyVariant Identifiers: chr11:g.46747727_46747728insGGAGGAGACAGGAGATGG (hg19) ; chr11:g.46726177_46726178insGGAGGAGACAGGAGATGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726178_46726179insGAGGAGACAGGAGATGGG , CM000673.2:g.46726178_46726179insGAGGAGACAGGAGATGGG	GRCh38
NC_000011.9:g.46747728_46747729insGAGGAGACAGGAGATGGG , CM000673.1:g.46747728_46747729insGAGGAGACAGGAGATGGG	GRCh37
NC_000011.8:g.46704304_46704305insGAGGAGACAGGAGATGGG	NCBI36
NG_008953.1:g.11986_11987insGAGGAGACAGGAGATGGG , LRG_551:g.11986_11987insGAGGAGACAGGAGATGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.874+5_874+6insGAGGAGACAGGAGATGGG MANE Select	ENSP00000308541.5:n.874+5_874+6insGAGGAGACAGGAGATGGG
ENST00000311907.9:c.874+5_874+6insGAGGAGACAGGAGATGGG	ENSP00000308541.5:n.874+5_874+6insGAGGAGACAGGAGATGGG
ENST00000442468.1:c.844+5_844+6insGAGGAGACAGGAGATGGG	ENSP00000387413.1:n.844+5_844+6insGAGGAGACAGGAGATGGG
ENST00000530231.5:c.874+5_874+6insGAGGAGACAGGAGATGGG	ENSP00000433907.1:n.874+5_874+6insGAGGAGACAGGAGATGGG
NM_000506.3:c.874+5_874+6insGAGGAGACAGGAGATGGG	NP_000497.1:n.874+5_874+6insGAGGAGACAGGAGATGGG
NM_000506.4:c.874+5_874+6insGAGGAGACAGGAGATGGG , LRG_551t1:c.874+5_874+6insGAGGAGACAGGAGATGGG	NP_000497.1:n.874+5_874+6insGAGGAGACAGGAGATGGG
NM_001311257.1:c.826+5_826+6insGAGGAGACAGGAGATGGG	NP_001298186.1:n.826+5_826+6insGAGGAGACAGGAGATGGG
XR_428840.2:n.918+5_918+6insGAGGAGACAGGAGATGGG
XR_428840.4:n.909+5_909+6insGAGGAGACAGGAGATGGG
NM_000506.5:c.874+5_874+6insGAGGAGACAGGAGATGGG MANE Select	NP_000497.1:n.874+5_874+6insGAGGAGACAGGAGATGGG
NM_001311257.2:c.826+5_826+6insGAGGAGACAGGAGATGGG	NP_001298186.1:n.826+5_826+6insGAGGAGACAGGAGATGGG