Canonical Allele Identifier: CA2676216451
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471683_157471684insCA , CM000667.2:g.157471683_157471684insCA GRCh38
NC_000005.9:g.156898691_156898692insCA , CM000667.1:g.156898691_156898692insCA GRCh37
NC_000005.8:g.156831269_156831270insCA NCBI36
NG_016626.1:g.16665_16666insCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.452_453insCA (NIPAL4) MANE Select ENSP00000311687.8:p.Arg151SerfsTer5
ENST00000435489.7:c.395_396insCA (NIPAL4) ENSP00000406456.3:p.Arg132SerfsTer5
ENST00000311946.7:c.638_639insCA (NIPAL4) ENSP00000311687.7:p.Arg213SerfsTer5
ENST00000435489.6:c.581_582insCA (NIPAL4) ENSP00000406456.2:p.Arg194SerfsTer5
ENST00000517951.5:c.*1741+16581_*1741+16582insTG (ADAM19) ENSP00000428376.1:n.*1741+16581_*1741+16582insTG
ENST00000519150.1:c.550_551insCA (NIPAL4) ENSP00000430810.1:n.550_551insCA
NM_001099287.1:c.638_639insCA (NIPAL4) NP_001092757.1:p.Arg213SerfsTer5
NM_001172292.1:c.581_582insCA (NIPAL4) NP_001165763.1:p.Arg194SerfsTer5
XM_011534552.1:c.143_144insCA (NIPAL4) XP_011532854.1:p.Arg48SerfsTer5
XM_024446043.1:c.-62_-61insCA (NIPAL4) XP_024301811.1:n.-62_-61insCA
NM_001099287.2:c.452_453insCA (NIPAL4) MANE Select NP_001092757.2:p.Arg151SerfsTer5