Canonical Allele Identifier: CA2676216452

Gene: NIPAL4 ADAM19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157471689del , CM000667.2:g.157471689del	GRCh38
NC_000005.9:g.156898697del , CM000667.1:g.156898697del	GRCh37
NC_000005.8:g.156831275del	NCBI36
NG_016626.1:g.16671del

Transcript Alleles

HGVS	Amino-acid Change
NM_001099287.2:c.458del (NIPAL4) MANE Select	NP_001092757.2:p.Ser153IlefsTer2
ENST00000311946.8:c.458del (NIPAL4) MANE Select	ENSP00000311687.8:p.Ser153IlefsTer2
NM_001099287.1:c.644del (NIPAL4)	NP_001092757.1:p.Ser215IlefsTer2
NM_001172292.1:c.587del (NIPAL4)	NP_001165763.1:p.Ser196IlefsTer2
ENST00000311946.7:c.644del (NIPAL4)	ENSP00000311687.7:p.Ser215IlefsTer2
ENST00000435489.6:c.587del (NIPAL4)	ENSP00000406456.2:p.Ser196IlefsTer2
ENST00000435489.7:c.401del (NIPAL4)	ENSP00000406456.3:p.Ser134IlefsTer2
ENST00000517951.5:c.*1741+16576del (ADAM19)	ENSP00000428376.1:n.*1741+16576del
ENST00000519150.1:c.556del (NIPAL4)	ENSP00000430810.1:n.556del
XM_011534552.1:c.149del (NIPAL4)	XP_011532854.1:p.Ser50IlefsTer2
XM_024446043.1:c.-56del (NIPAL4)	XP_024301811.1:n.-56del