Canonical Allele Identifier: CA5967078

Gene: F2

Linked Data

• dbSNP Id: rs771840931
• ExAC: 11:46747730 T / TG
• gnomAD v2: 11-46747730-T-TG
• gnomAD v4: 11-46726180-T-TG
• MyVariant Identifiers: chr11:g.46747732_46747743delinsGCCTGGGTAGGGG (hg19) ; chr11:g.46747730_46747731insG (hg19) ; chr11:g.46726180_46726181insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726181dup , CM000673.2:g.46726181dup	GRCh38
NC_000011.9:g.46747731dup , CM000673.1:g.46747731dup	GRCh37
NC_000011.8:g.46704307dup	NCBI36
NG_008953.1:g.11989dup , LRG_551:g.11989dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.874+8dup MANE Select	ENSP00000308541.5:n.874+8dup
ENST00000311907.9:c.874+8dup	ENSP00000308541.5:n.874+8dup
ENST00000442468.1:c.844+8dup	ENSP00000387413.1:n.844+8dup
ENST00000530231.5:c.874+8dup	ENSP00000433907.1:n.874+8dup
NM_000506.3:c.874+8dup	NP_000497.1:n.874+8dup
NM_000506.4:c.874+8dup , LRG_551t1:c.874+8dup	NP_000497.1:n.874+8dup
NM_001311257.1:c.826+8dup	NP_001298186.1:n.826+8dup
XR_428840.2:n.918+8dup
XR_428840.4:n.909+8dup
NM_000506.5:c.874+8dup MANE Select	NP_000497.1:n.874+8dup
NM_001311257.2:c.826+8dup	NP_001298186.1:n.826+8dup