Canonical Allele Identifier: CA2841589560
Gene: NIPAL4 HGNC NCBI
ADAM19 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000311946.8:c.474dup (NIPAL4) MANE Select ENSP00000311687.8:p.Lys159GlufsTer20
ENST00000435489.7:c.417dup (NIPAL4) ENSP00000406456.3:p.Lys140GlufsTer20
ENST00000311946.7:c.660dup (NIPAL4) ENSP00000311687.7:p.Lys221GlufsTer20
ENST00000435489.6:c.603dup (NIPAL4) ENSP00000406456.2:p.Lys202GlufsTer20
ENST00000517951.5:c.*1741+16563dup (ADAM19) ENSP00000428376.1:n.*1741+16563dup
ENST00000519150.1:c.572dup (NIPAL4) ENSP00000430810.1:n.572dup
NM_001099287.1:c.660dup (NIPAL4) NP_001092757.1:p.Lys221GlufsTer20
NM_001172292.1:c.603dup (NIPAL4) NP_001165763.1:p.Lys202GlufsTer20
XM_011534552.1:c.165dup (NIPAL4) XP_011532854.1:p.Lys56GlufsTer20
XM_024446043.1:c.-40dup (NIPAL4) XP_024301811.1:n.-40dup
NM_001099287.2:c.474dup (NIPAL4) MANE Select NP_001092757.2:p.Lys159GlufsTer20