Canonical Allele Identifier: CA1594183079
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Linked Data

dbSNP Id: rs1754161772

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157463319dup , CM000667.2:g.157463319dup GRCh38
NC_000005.9:g.156890327dup , CM000667.1:g.156890327dup GRCh37
NC_000005.8:g.156822905dup NCBI36
NG_016626.1:g.8301dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.263dup (NIPAL4) MANE Select ENSP00000311687.8:p.Ala89SerfsTer?
ENST00000435489.7:c.263dup (NIPAL4) ENSP00000406456.3:p.Ala89SerfsTer?
ENST00000311946.7:c.449dup (NIPAL4) ENSP00000311687.7:p.Ala151SerfsTer?
ENST00000435489.6:c.449dup (NIPAL4) ENSP00000406456.2:p.Ala151SerfsTer?
ENST00000517951.5:c.*1741+24948dup (ADAM19) ENSP00000428376.1:n.*1741+24948dup
ENST00000519150.1:c.361dup (NIPAL4) ENSP00000430810.1:p.Glu121GlyfsTer?
ENST00000519946.1:n.477dup (NIPAL4)
ENST00000521390.5:n.368dup (NIPAL4)
NM_001099287.1:c.449dup (NIPAL4) NP_001092757.1:p.Ala151SerfsTer?
NM_001172292.1:c.449dup (NIPAL4) NP_001165763.1:p.Ala151SerfsTer?
XM_011534552.1:c.-47dup (NIPAL4) XP_011532854.1:n.-47dup
XM_024446043.1:c.-194dup (NIPAL4) XP_024301811.1:n.-194dup
NM_001099287.2:c.263dup (NIPAL4) MANE Select NP_001092757.2:p.Ala89SerfsTer?