Canonical Allele Identifier: CA2578467741

Gene: NIPAL4 ADAM19

Linked Data

• gnomAD v4: 5-157463148-ATGACCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463149_157463154del , CM000667.2:g.157463149_157463154del	GRCh38
NC_000005.9:g.156890157_156890162del , CM000667.1:g.156890157_156890162del	GRCh37
NC_000005.8:g.156822735_156822740del	NCBI36
NG_016626.1:g.8131_8136del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311946.8:c.93_98del (NIPAL4) MANE Select	ENSP00000311687.8:p.Asp32_Leu33del
ENST00000435489.7:c.93_98del (NIPAL4)	ENSP00000406456.3:p.Asp32_Leu33del
ENST00000311946.7:c.279_284del (NIPAL4)	ENSP00000311687.7:p.Asp94_Leu95del
ENST00000435489.6:c.279_284del (NIPAL4)	ENSP00000406456.2:p.Asp94_Leu95del
ENST00000517951.5:c.*1741+25111_*1741+25116del (ADAM19)	ENSP00000428376.1:n.*1741+25111_*1741+25116del
ENST00000519150.1:c.191_196del (NIPAL4)	ENSP00000430810.1:p.Met64_Ser66delinsThr
ENST00000519946.1:n.307_312del (NIPAL4)
ENST00000521390.5:n.198_203del (NIPAL4)
NM_001099287.1:c.279_284del (NIPAL4)	NP_001092757.1:p.Asp94_Leu95del
NM_001172292.1:c.279_284del (NIPAL4)	NP_001165763.1:p.Asp94_Leu95del
XM_011534552.1:c.-217_-212del (NIPAL4)	XP_011532854.1:n.-217_-212del
XM_024446043.1:c.-364_-359del (NIPAL4)	XP_024301811.1:n.-364_-359del
NM_001099287.2:c.93_98del (NIPAL4) MANE Select	NP_001092757.2:p.Asp32_Leu33del