Canonical Allele Identifier: CA2676215125

Gene: NIPAL4 ADAM19

Linked Data

• gnomAD v4: 5-157463245-ATTCCTGTCTAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463251_157463262del , CM000667.2:g.157463251_157463262del	GRCh38
NC_000005.9:g.156890259_156890270del , CM000667.1:g.156890259_156890270del	GRCh37
NC_000005.8:g.156822837_156822848del	NCBI36
NG_016626.1:g.8233_8244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.195_206del (NIPAL4) MANE Select	ENSP00000311687.8:p.Ser66_Leu69del
ENST00000435489.7:c.195_206del (NIPAL4)	ENSP00000406456.3:p.Ser66_Leu69del
ENST00000311946.7:c.381_392del (NIPAL4)	ENSP00000311687.7:p.Ser128_Leu131del
ENST00000435489.6:c.381_392del (NIPAL4)	ENSP00000406456.2:p.Ser128_Leu131del
ENST00000517951.5:c.*1741+25008_*1741+25019del (ADAM19)	ENSP00000428376.1:n.*1741+25008_*1741+25019del
ENST00000519150.1:c.293_304del (NIPAL4)	ENSP00000430810.1:p.Cys98_Ser101del
ENST00000519946.1:n.409_420del (NIPAL4)
ENST00000521390.5:n.300_311del (NIPAL4)
NM_001099287.1:c.381_392del (NIPAL4)	NP_001092757.1:p.Ser128_Leu131del
NM_001172292.1:c.381_392del (NIPAL4)	NP_001165763.1:p.Ser128_Leu131del
XM_011534552.1:c.-115_-104del (NIPAL4)	XP_011532854.1:n.-115_-104del
XM_024446043.1:c.-262_-251del (NIPAL4)	XP_024301811.1:n.-262_-251del
NM_001099287.2:c.195_206del (NIPAL4) MANE Select	NP_001092757.2:p.Ser66_Leu69del