Canonical Allele Identifier: CA2694983138

Gene: NSDHL

Linked Data

• gnomAD v4: X-152862823-T-TAC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152862824_152862825dup , CM000685.2:g.152862824_152862825dup	GRCh38
NC_000023.10:g.152031368_152031369dup , CM000685.1:g.152031368_152031369dup	GRCh37
NC_000023.9:g.151782024_151782025dup	NCBI36
NG_009163.1:g.36858_36859dup
NG_009163.2:g.36858_36859dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.543+100_543+101dup MANE Select	ENSP00000359297.3:n.543+100_543+101dup
ENST00000370274.7:c.543+100_543+101dup	ENSP00000359297.3:n.543+100_543+101dup
ENST00000432467.1:c.543+100_543+101dup	ENSP00000396266.1:n.543+100_543+101dup
ENST00000440023.5:c.543+100_543+101dup	ENSP00000391854.1:n.543+100_543+101dup
NM_001129765.1:c.543+100_543+101dup	NP_001123237.1:n.543+100_543+101dup
NM_015922.2:c.543+100_543+101dup	NP_057006.1:n.543+100_543+101dup
XM_011531178.1:c.543+100_543+101dup	XP_011529480.1:n.543+100_543+101dup
XM_011531178.2:c.543+100_543+101dup	XP_011529480.1:n.543+100_543+101dup
XM_017029564.1:c.591+100_591+101dup	XP_016885053.1:n.591+100_591+101dup
NM_015922.3:c.543+100_543+101dup MANE Select	NP_057006.1:n.543+100_543+101dup
NM_001129765.2:c.543+100_543+101dup	NP_001123237.1:n.543+100_543+101dup