Canonical Allele Identifier: CA633890032

Gene: NTF4

Linked Data

• dbSNP Id: rs1243902697
• gnomAD v2: 19-49565213-AAGG-A
• gnomAD v3: 19-49061956-AAGG-A
• gnomAD v4: 19-49061956-AAGG-A
• MyVariant Identifiers: chr19:g.49565214_49565216del (hg19) ; chr19:g.49061957_49061959del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49061964_49061966del , CM000681.2:g.49061964_49061966del	GRCh38
NC_000019.9:g.49565221_49565223del , CM000681.1:g.49565221_49565223del	GRCh37
NC_000019.8:g.54257033_54257035del	NCBI36
NG_016289.1:g.6909_6911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593537.2:c.39_41del MANE Select	ENSP00000469455.1:p.Leu14del
ENST00000594938.2:c.39_41del	ENSP00000512387.1:p.Leu14del
ENST00000595857.6:c.39_41del	ENSP00000471508.2:p.Leu14del
ENST00000696088.1:c.39_41del	ENSP00000512384.1:p.Leu14del
ENST00000696089.1:c.39_41del	ENSP00000512385.1:p.Leu14del
ENST00000696090.1:c.39_41del	ENSP00000512386.1:p.Leu14del
ENST00000696091.1:c.39_41del	ENSP00000512388.1:p.Leu14del
ENST00000593537.1:c.39_41del	ENSP00000469455.1:p.Leu14del
ENST00000595857.5:c.39_41del	ENSP00000471508.1:p.Leu14del
ENST00000599795.5:c.39_41del	ENSP00000470689.1:p.Leu14del
NM_006179.4:c.39_41del	NP_006170.1:p.Leu14del
XM_005258962.2:c.39_41del	XP_005259019.1:p.Leu14del
XM_006723232.2:c.39_41del	XP_006723295.1:p.Leu14del
XM_011527008.1:c.69_71del	XP_011525310.1:p.Leu24del
XM_011527009.1:c.39_41del	XP_011525311.1:p.Leu14del
XM_011527010.1:c.39_41del	XP_011525312.1:p.Leu14del
XM_005258962.3:c.39_41del	XP_005259019.1:p.Leu14del
XM_006723232.3:c.39_41del	XP_006723295.1:p.Leu14del
XM_011527008.2:c.69_71del	XP_011525310.1:p.Leu24del
XM_011527009.2:c.39_41del	XP_011525311.1:p.Leu14del
XM_011527010.2:c.39_41del	XP_011525312.1:p.Leu14del
XR_001753693.1:n.84_86del
XR_001753694.1:n.84_86del
NM_001395489.1:c.39_41del	NP_001382418.1:p.Leu14del
NM_006179.5:c.39_41del MANE Select	NP_006170.1:p.Leu14del