Canonical Allele Identifier: CA2694983131

Gene: NSDHL

Linked Data

• gnomAD v4: X-152862813-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152862814del , CM000685.2:g.152862814del	GRCh38
NC_000023.10:g.152031358del , CM000685.1:g.152031358del	GRCh37
NC_000023.9:g.151782014del	NCBI36
NG_009163.1:g.36848del
NG_009163.2:g.36848del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.543+90del MANE Select	ENSP00000359297.3:n.543+90del
ENST00000370274.7:c.543+90del	ENSP00000359297.3:n.543+90del
ENST00000432467.1:c.543+90del	ENSP00000396266.1:n.543+90del
ENST00000440023.5:c.543+90del	ENSP00000391854.1:n.543+90del
NM_001129765.1:c.543+90del	NP_001123237.1:n.543+90del
NM_015922.2:c.543+90del	NP_057006.1:n.543+90del
XM_011531178.1:c.543+90del	XP_011529480.1:n.543+90del
XM_011531178.2:c.543+90del	XP_011529480.1:n.543+90del
XM_017029564.1:c.591+90del	XP_016885053.1:n.591+90del
NM_015922.3:c.543+90del MANE Select	NP_057006.1:n.543+90del
NM_001129765.2:c.543+90del	NP_001123237.1:n.543+90del