Canonical Allele Identifier: CA2694983158

Gene: NSDHL

Linked Data

• gnomAD v4: X-152862864-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152862869del , CM000685.2:g.152862869del	GRCh38
NC_000023.10:g.152031413del , CM000685.1:g.152031413del	GRCh37
NC_000023.9:g.151782069del	NCBI36
NG_009163.1:g.36903del
NG_009163.2:g.36903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.543+145del MANE Select	ENSP00000359297.3:n.543+145del
ENST00000370274.7:c.543+145del	ENSP00000359297.3:n.543+145del
ENST00000432467.1:c.543+145del	ENSP00000396266.1:n.543+145del
ENST00000440023.5:c.543+145del	ENSP00000391854.1:n.543+145del
NM_001129765.1:c.543+145del	NP_001123237.1:n.543+145del
NM_015922.2:c.543+145del	NP_057006.1:n.543+145del
XM_011531178.1:c.543+145del	XP_011529480.1:n.543+145del
XM_011531178.2:c.543+145del	XP_011529480.1:n.543+145del
XM_017029564.1:c.591+145del	XP_016885053.1:n.591+145del
NM_015922.3:c.543+145del MANE Select	NP_057006.1:n.543+145del
NM_001129765.2:c.543+145del	NP_001123237.1:n.543+145del