Canonical Allele Identifier: CA599372337

Gene: F2

Linked Data

• dbSNP Id: rs1395067984
• gnomAD v2: 11-46747836-T-TA
• gnomAD v3: 11-46726286-T-TA
• gnomAD v4: 11-46726286-T-TA
• MyVariant Identifiers: chr11:g.46747836_46747837insA (hg19) ; chr11:g.46726286_46726287insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726287dup , CM000673.2:g.46726287dup	GRCh38
NC_000011.9:g.46747837dup , CM000673.1:g.46747837dup	GRCh37
NC_000011.8:g.46704413dup	NCBI36
NG_008953.1:g.12095dup , LRG_551:g.12095dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.874+114dup MANE Select	ENSP00000308541.5:n.874+114dup
ENST00000311907.9:c.874+114dup	ENSP00000308541.5:n.874+114dup
ENST00000442468.1:c.844+114dup	ENSP00000387413.1:n.844+114dup
ENST00000530231.5:c.874+114dup	ENSP00000433907.1:n.874+114dup
NM_000506.3:c.874+114dup	NP_000497.1:n.874+114dup
NM_000506.4:c.874+114dup , LRG_551t1:c.874+114dup	NP_000497.1:n.874+114dup
NM_001311257.1:c.826+114dup	NP_001298186.1:n.826+114dup
XR_428840.2:n.918+114dup
XR_428840.4:n.909+114dup
NM_000506.5:c.874+114dup MANE Select	NP_000497.1:n.874+114dup
NM_001311257.2:c.826+114dup	NP_001298186.1:n.826+114dup