Canonical Allele Identifier: CA2613335626

Gene: F2

Linked Data

• gnomAD v4: 11-46728130-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46728132_46728133del , CM000673.2:g.46728132_46728133del	GRCh38
NC_000011.9:g.46749682_46749683del , CM000673.1:g.46749682_46749683del	GRCh37
NC_000011.8:g.46706258_46706259del	NCBI36
NG_008953.1:g.13940_13941del , LRG_551:g.13940_13941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.1267_1268del MANE Select	ENSP00000308541.5:p.Leu423GlyfsTer16
ENST00000311907.9:c.1267_1268del	ENSP00000308541.5:p.Leu423GlyfsTer16
ENST00000530231.5:c.1267_1268del	ENSP00000433907.1:p.Leu423GlyfsTer16
NM_000506.3:c.1267_1268del	NP_000497.1:p.Leu423GlyfsTer16
NM_000506.4:c.1267_1268del , LRG_551t1:c.1267_1268del	NP_000497.1:p.Leu423GlyfsTer16
NM_001311257.1:c.1219_1220del	NP_001298186.1:p.Leu407GlyfsTer16
XR_428840.2:n.1311_1312del
XR_428840.4:n.1302_1303del
NM_000506.5:c.1267_1268del MANE Select	NP_000497.1:p.Leu423GlyfsTer16
NM_001311257.2:c.1219_1220del	NP_001298186.1:p.Leu407GlyfsTer16