Canonical Allele Identifier: CA2694983394

Gene: NSDHL

Linked Data

• gnomAD v4: X-152867688-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152867689_152867690del , CM000685.2:g.152867689_152867690del	GRCh38
NC_000023.10:g.152036233_152036234del , CM000685.1:g.152036233_152036234del	GRCh37
NC_000023.9:g.151786889_151786890del	NCBI36
NG_009163.1:g.41723_41724del
NG_009163.2:g.41723_41724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.789+16_789+17del MANE Select	ENSP00000359297.3:n.789+16_789+17del
ENST00000370274.7:c.789+16_789+17del	ENSP00000359297.3:n.789+16_789+17del
ENST00000440023.5:c.789+16_789+17del	ENSP00000391854.1:n.789+16_789+17del
NM_001129765.1:c.789+16_789+17del	NP_001123237.1:n.789+16_789+17del
NM_015922.2:c.789+16_789+17del	NP_057006.1:n.789+16_789+17del
XM_011531178.1:c.789+16_789+17del	XP_011529480.1:n.789+16_789+17del
XM_011531178.2:c.789+16_789+17del	XP_011529480.1:n.789+16_789+17del
XM_017029564.1:c.837+16_837+17del	XP_016885053.1:n.837+16_837+17del
NM_015922.3:c.789+16_789+17del MANE Select	NP_057006.1:n.789+16_789+17del
NM_001129765.2:c.789+16_789+17del	NP_001123237.1:n.789+16_789+17del