Canonical Allele Identifier: CA2676216453
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471705del , CM000667.2:g.157471705del GRCh38
NC_000005.9:g.156898713del , CM000667.1:g.156898713del GRCh37
NC_000005.8:g.156831291del NCBI36
NG_016626.1:g.16687del

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.474del (NIPAL4) MANE Select ENSP00000311687.8:p.Lys159SerfsTer5
ENST00000435489.7:c.417del (NIPAL4) ENSP00000406456.3:p.Lys140SerfsTer5
ENST00000311946.7:c.660del (NIPAL4) ENSP00000311687.7:p.Lys221SerfsTer5
ENST00000435489.6:c.603del (NIPAL4) ENSP00000406456.2:p.Lys202SerfsTer5
ENST00000517951.5:c.*1741+16563del (ADAM19) ENSP00000428376.1:n.*1741+16563del
ENST00000519150.1:c.572del (NIPAL4) ENSP00000430810.1:n.572del
NM_001099287.1:c.660del (NIPAL4) NP_001092757.1:p.Lys221SerfsTer5
NM_001172292.1:c.603del (NIPAL4) NP_001165763.1:p.Lys202SerfsTer5
XM_011534552.1:c.165del (NIPAL4) XP_011532854.1:p.Lys56SerfsTer5
XM_024446043.1:c.-40del (NIPAL4) XP_024301811.1:n.-40del
NM_001099287.2:c.474del (NIPAL4) MANE Select NP_001092757.2:p.Lys159SerfsTer5