Canonical Allele Identifier: CA2586311536

Gene: NTF4

Linked Data

• gnomAD v4: 19-49061760-G-GCCGGCTGCGGTTGGCCGGGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49061763_49061784dup , CM000681.2:g.49061763_49061784dup	GRCh38
NC_000019.9:g.49565020_49565041dup , CM000681.1:g.49565020_49565041dup	GRCh37
NC_000019.8:g.54256832_54256853dup	NCBI36
NG_016289.1:g.7086_7107dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000593537.2:c.216_237dup MANE Select	ENSP00000469455.1:p.Arg80CysfsTer21
ENST00000594938.2:c.216_237dup	ENSP00000512387.1:p.Arg80CysfsTer21
ENST00000595857.6:c.216_237dup	ENSP00000471508.2:p.Arg80CysfsTer21
ENST00000696088.1:c.216_237dup	ENSP00000512384.1:p.Arg80CysfsTer21
ENST00000696089.1:c.216_237dup	ENSP00000512385.1:p.Arg80CysfsTer21
ENST00000696090.1:c.216_237dup	ENSP00000512386.1:p.Arg80CysfsTer21
ENST00000696091.1:c.216_237dup	ENSP00000512388.1:p.Arg80CysfsTer21
ENST00000593537.1:c.216_237dup	ENSP00000469455.1:p.Arg80CysfsTer21
ENST00000595857.5:c.216_237dup	ENSP00000471508.1:p.Arg80CysfsTer21
ENST00000599795.5:c.216_237dup	ENSP00000470689.1:p.Arg80CysfsTer?
NM_006179.4:c.216_237dup	NP_006170.1:p.Arg80CysfsTer21
XM_005258962.2:c.216_237dup	XP_005259019.1:p.Arg80CysfsTer21
XM_006723232.2:c.216_237dup	XP_006723295.1:p.Arg80CysfsTer21
XM_011527008.1:c.246_267dup	XP_011525310.1:p.Arg90CysfsTer21
XM_011527009.1:c.216_237dup	XP_011525311.1:p.Arg80CysfsTer21
XM_011527010.1:c.216_237dup	XP_011525312.1:p.Arg80CysfsTer21
XM_005258962.3:c.216_237dup	XP_005259019.1:p.Arg80CysfsTer21
XM_006723232.3:c.216_237dup	XP_006723295.1:p.Arg80CysfsTer21
XM_011527008.2:c.246_267dup	XP_011525310.1:p.Arg90CysfsTer21
XM_011527009.2:c.216_237dup	XP_011525311.1:p.Arg80CysfsTer21
XM_011527010.2:c.216_237dup	XP_011525312.1:p.Arg80CysfsTer21
XR_001753693.1:n.261_282dup
XR_001753694.1:n.261_282dup
NM_001395489.1:c.216_237dup	NP_001382418.1:p.Arg80CysfsTer21
NM_006179.5:c.216_237dup MANE Select	NP_006170.1:p.Arg80CysfsTer21