Canonical Allele Identifier: CA274742455

Gene: FURIN

Linked Data

• dbSNP Id: rs989424423
• gnomAD v4: 15-90881984-C-CA
• MyVariant Identifiers: chr15:g.91425214_91425215insA (hg19) ; chr15:g.90881984_90881985insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90881986dup , CM000677.2:g.90881986dup	GRCh38
NC_000015.9:g.91425216dup , CM000677.1:g.91425216dup	GRCh37
NC_000015.8:g.89226220dup	NCBI36
NG_029671.1:g.2529dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268171.8:c.*108dup MANE Select	ENSP00000268171.2:n.*108dup
ENST00000680053.1:c.*108dup	ENSP00000506143.1:n.*108dup
ENST00000680086.1:n.323+249dup
ENST00000680687.1:c.*1717dup	ENSP00000505177.1:n.*1717dup
ENST00000681804.1:c.*1853dup	ENSP00000505828.1:n.*1853dup
ENST00000681865.1:c.*108dup	ENSP00000505303.1:n.*108dup
ENST00000268171.7:c.*108dup	ENSP00000268171.2:n.*108dup
ENST00000610579.4:c.*108dup	ENSP00000484952.1:n.*108dup
ENST00000618099.4:c.*108dup	ENSP00000483552.1:n.*108dup
NM_001289823.1:c.*108dup	NP_001276752.1:n.*108dup
NM_001289824.1:c.*108dup	NP_001276753.1:n.*108dup
NM_002569.3:c.*108dup	NP_002560.1:n.*108dup
NM_002569.4:c.*108dup MANE Select	NP_002560.1:n.*108dup
NM_001289823.2:c.*108dup	NP_001276752.1:n.*108dup
NM_001289824.2:c.*108dup	NP_001276753.1:n.*108dup
NM_001382619.1:c.*108dup	NP_001369548.1:n.*108dup
NM_001382620.1:c.*108dup	NP_001369549.1:n.*108dup
NM_001382621.1:c.*108dup	NP_001369550.1:n.*108dup
NM_001382622.1:c.*524dup	NP_001369551.1:n.*524dup
NR_168464.1:n.2716dup