Canonical Allele Identifier: CA2960294304

Gene: NIPAL4 ADAM19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157471794dup , CM000667.2:g.157471794dup	GRCh38
NC_000005.9:g.156898802dup , CM000667.1:g.156898802dup	GRCh37
NC_000005.8:g.156831380dup	NCBI36
NG_016626.1:g.16776dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.563dup (NIPAL4) MANE Select	ENSP00000311687.8:p.Met188IlefsTer?
ENST00000435489.7:c.506dup (NIPAL4)	ENSP00000406456.3:p.Met169IlefsTer?
ENST00000311946.7:c.749dup (NIPAL4)	ENSP00000311687.7:p.Met250IlefsTer?
ENST00000435489.6:c.692dup (NIPAL4)	ENSP00000406456.2:p.Met231IlefsTer?
ENST00000517951.5:c.*1741+16471dup (ADAM19)	ENSP00000428376.1:n.*1741+16471dup
ENST00000519150.1:c.661dup (NIPAL4)	ENSP00000430810.1:n.661dup
NM_001099287.1:c.749dup (NIPAL4)	NP_001092757.1:p.Met250IlefsTer?
NM_001172292.1:c.692dup (NIPAL4)	NP_001165763.1:p.Met231IlefsTer?
XM_011534552.1:c.254dup (NIPAL4)	XP_011532854.1:p.Met85IlefsTer?
XM_024446043.1:c.50dup (NIPAL4)	XP_024301811.1:p.Met17IlefsTer?
NM_001099287.2:c.563dup (NIPAL4) MANE Select	NP_001092757.2:p.Met188IlefsTer?