Canonical Allele Identifier: CA2676216450
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157471682del , CM000667.2:g.157471682del GRCh38
NC_000005.9:g.156898690del , CM000667.1:g.156898690del GRCh37
NC_000005.8:g.156831268del NCBI36
NG_016626.1:g.16664del

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.451del (NIPAL4) MANE Select ENSP00000311687.8:p.Arg151GlyfsTer4
ENST00000435489.7:c.394del (NIPAL4) ENSP00000406456.3:p.Arg132GlyfsTer4
ENST00000311946.7:c.637del (NIPAL4) ENSP00000311687.7:p.Arg213GlyfsTer4
ENST00000435489.6:c.580del (NIPAL4) ENSP00000406456.2:p.Arg194GlyfsTer4
ENST00000517951.5:c.*1741+16583del (ADAM19) ENSP00000428376.1:n.*1741+16583del
ENST00000519150.1:c.549del (NIPAL4) ENSP00000430810.1:n.549del
NM_001099287.1:c.637del (NIPAL4) NP_001092757.1:p.Arg213GlyfsTer4
NM_001172292.1:c.580del (NIPAL4) NP_001165763.1:p.Arg194GlyfsTer4
XM_011534552.1:c.142del (NIPAL4) XP_011532854.1:p.Arg48GlyfsTer4
XM_024446043.1:c.-63del (NIPAL4) XP_024301811.1:n.-63del
NM_001099287.2:c.451del (NIPAL4) MANE Select NP_001092757.2:p.Arg151GlyfsTer4