Canonical Allele Identifier: CA2960294301

Gene: NIPAL4 ADAM19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157471687dup , CM000667.2:g.157471687dup	GRCh38
NC_000005.9:g.156898695dup , CM000667.1:g.156898695dup	GRCh37
NC_000005.8:g.156831273dup	NCBI36
NG_016626.1:g.16669dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.456dup (NIPAL4) MANE Select	ENSP00000311687.8:p.Ser153GlufsTer26
ENST00000435489.7:c.399dup (NIPAL4)	ENSP00000406456.3:p.Ser134GlufsTer26
ENST00000311946.7:c.642dup (NIPAL4)	ENSP00000311687.7:p.Ser215GlufsTer26
ENST00000435489.6:c.585dup (NIPAL4)	ENSP00000406456.2:p.Ser196GlufsTer26
ENST00000517951.5:c.*1741+16578dup (ADAM19)	ENSP00000428376.1:n.*1741+16578dup
ENST00000519150.1:c.554dup (NIPAL4)	ENSP00000430810.1:n.554dup
NM_001099287.1:c.642dup (NIPAL4)	NP_001092757.1:p.Ser215GlufsTer26
NM_001172292.1:c.585dup (NIPAL4)	NP_001165763.1:p.Ser196GlufsTer26
XM_011534552.1:c.147dup (NIPAL4)	XP_011532854.1:p.Ser50GlufsTer26
XM_024446043.1:c.-58dup (NIPAL4)	XP_024301811.1:n.-58dup
NM_001099287.2:c.456dup (NIPAL4) MANE Select	NP_001092757.2:p.Ser153GlufsTer26