Canonical Allele Identifier: CA2676216449

Gene: NIPAL4 ADAM19

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157471680del , CM000667.2:g.157471680del	GRCh38
NC_000005.9:g.156898688del , CM000667.1:g.156898688del	GRCh37
NC_000005.8:g.156831266del	NCBI36
NG_016626.1:g.16662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.449del (NIPAL4) MANE Select	ENSP00000311687.8:p.Leu150ArgfsTer5
ENST00000435489.7:c.392del (NIPAL4)	ENSP00000406456.3:p.Leu131ArgfsTer5
ENST00000311946.7:c.635del (NIPAL4)	ENSP00000311687.7:p.Leu212ArgfsTer5
ENST00000435489.6:c.578del (NIPAL4)	ENSP00000406456.2:p.Leu193ArgfsTer5
ENST00000517951.5:c.*1741+16585del (ADAM19)	ENSP00000428376.1:n.*1741+16585del
ENST00000519150.1:c.547del (NIPAL4)	ENSP00000430810.1:n.547del
NM_001099287.1:c.635del (NIPAL4)	NP_001092757.1:p.Leu212ArgfsTer5
NM_001172292.1:c.578del (NIPAL4)	NP_001165763.1:p.Leu193ArgfsTer5
XM_011534552.1:c.140del (NIPAL4)	XP_011532854.1:p.Leu47ArgfsTer5
XM_024446043.1:c.-65del (NIPAL4)	XP_024301811.1:n.-65del
NM_001099287.2:c.449del (NIPAL4) MANE Select	NP_001092757.2:p.Leu150ArgfsTer5