Canonical Allele Identifier: CA2560929024

Gene: NTF4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49061625_49061626del , CM000681.2:g.49061625_49061626del	GRCh38
NC_000019.9:g.49564882_49564883del , CM000681.1:g.49564882_49564883del	GRCh37
NC_000019.8:g.54256694_54256695del	NCBI36
NG_016289.1:g.7242_7243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593537.2:c.372_373del MANE Select	ENSP00000469455.1:p.Pro125CysfsTer13
ENST00000594938.2:c.372_373del	ENSP00000512387.1:p.Pro125CysfsTer13
ENST00000595857.6:c.372_373del	ENSP00000471508.2:p.Pro125CysfsTer13
ENST00000696088.1:c.372_373del	ENSP00000512384.1:p.Pro125CysfsTer13
ENST00000696089.1:c.372_373del	ENSP00000512385.1:p.Pro125CysfsTer13
ENST00000696090.1:c.372_373del	ENSP00000512386.1:p.Pro125CysfsTer13
ENST00000696091.1:c.372_373del	ENSP00000512388.1:p.Pro125CysfsTer13
ENST00000593537.1:c.372_373del	ENSP00000469455.1:p.Pro125CysfsTer13
ENST00000595857.5:c.372_373del	ENSP00000471508.1:p.Pro125CysfsTer13
ENST00000599795.5:c.243+129_243+130del	ENSP00000470689.1:n.243+129_243+130del
NM_006179.4:c.372_373del	NP_006170.1:p.Pro125CysfsTer13
XM_005258962.2:c.372_373del	XP_005259019.1:p.Pro125CysfsTer13
XM_006723232.2:c.372_373del	XP_006723295.1:p.Pro125CysfsTer13
XM_011527008.1:c.402_403del	XP_011525310.1:p.Pro135CysfsTer13
XM_011527009.1:c.372_373del	XP_011525311.1:p.Pro125CysfsTer13
XM_011527010.1:c.372_373del	XP_011525312.1:p.Pro125CysfsTer13
XM_005258962.3:c.372_373del	XP_005259019.1:p.Pro125CysfsTer13
XM_006723232.3:c.372_373del	XP_006723295.1:p.Pro125CysfsTer13
XM_011527008.2:c.402_403del	XP_011525310.1:p.Pro135CysfsTer13
XM_011527009.2:c.372_373del	XP_011525311.1:p.Pro125CysfsTer13
XM_011527010.2:c.372_373del	XP_011525312.1:p.Pro125CysfsTer13
XR_001753693.1:n.417_418del
XR_001753694.1:n.417_418del
NM_001395489.1:c.372_373del	NP_001382418.1:p.Pro125CysfsTer13
NM_006179.5:c.372_373del MANE Select	NP_006170.1:p.Pro125CysfsTer13