Canonical Allele Identifier: CA1594183018

Gene: NIPAL4 ADAM19

Linked Data

• dbSNP Id: rs1754153951
• gnomAD v4: 5-157463158-CCCTGAGGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463161_157463169del , CM000667.2:g.157463161_157463169del	GRCh38
NC_000005.9:g.156890169_156890177del , CM000667.1:g.156890169_156890177del	GRCh37
NC_000005.8:g.156822747_156822755del	NCBI36
NG_016626.1:g.8143_8151del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.105_113del (NIPAL4) MANE Select	ENSP00000311687.8:p.Glu36_Pro38del
ENST00000435489.7:c.105_113del (NIPAL4)	ENSP00000406456.3:p.Glu36_Pro38del
ENST00000311946.7:c.291_299del (NIPAL4)	ENSP00000311687.7:p.Glu98_Pro100del
ENST00000435489.6:c.291_299del (NIPAL4)	ENSP00000406456.2:p.Glu98_Pro100del
ENST00000517951.5:c.*1741+25098_*1741+25106del (ADAM19)	ENSP00000428376.1:n.*1741+25098_*1741+25106del
ENST00000519150.1:c.203_211del (NIPAL4)	ENSP00000430810.1:p.Leu68_Cys70del
ENST00000519946.1:n.319_327del (NIPAL4)
ENST00000521390.5:n.210_218del (NIPAL4)
NM_001099287.1:c.291_299del (NIPAL4)	NP_001092757.1:p.Glu98_Pro100del
NM_001172292.1:c.291_299del (NIPAL4)	NP_001165763.1:p.Glu98_Pro100del
XM_011534552.1:c.-205_-197del (NIPAL4)	XP_011532854.1:n.-205_-197del
XM_024446043.1:c.-352_-344del (NIPAL4)	XP_024301811.1:n.-352_-344del
NM_001099287.2:c.105_113del (NIPAL4) MANE Select	NP_001092757.2:p.Glu36_Pro38del