Canonical Allele Identifier: CA966919472

Gene: ADSS1

Linked Data

• ClinVar Variation Id: 2892708
• ClinVar RCV Id: RCV003717947
• dbSNP Id: rs1891337397
• gnomAD v3: 14-104741208-AG-A
• gnomAD v4: 14-104741208-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741211del , CM000676.2:g.104741211del	GRCh38
NC_000014.8:g.105207548del , CM000676.1:g.105207548del	GRCh37
NC_000014.7:g.104278593del	NCBI36
NG_051175.1:g.22015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710323.1:c.761del	ENSP00000518203.1:p.Gly254ValfsTer17
ENST00000330877.7:c.761del MANE Select	ENSP00000331260.2:p.Gly254ValfsTer17
ENST00000330877.6:c.761del	ENSP00000331260.2:p.Gly254ValfsTer17
ENST00000332972.9:c.890del	ENSP00000333019.5:p.Gly297ValfsTer17
ENST00000553540.5:c.873del	ENSP00000450759.1:n.873del
ENST00000555486.5:c.826del	ENSP00000473778.1:n.826del
ENST00000557582.5:n.1682del
NM_152328.3:c.761del	NP_689541.1:p.Gly254ValfsTer17
NM_199165.1:c.890del	NP_954634.1:p.Gly297ValfsTer17
XM_006720026.2:c.764del	XP_006720089.1:p.Gly255ValfsTer17
XM_011536412.1:c.893del	XP_011534714.1:p.Gly298ValfsTer17
XM_011536413.1:c.578del	XP_011534715.1:p.Gly193ValfsTer17
XM_011536414.1:c.575del	XP_011534716.1:p.Gly192ValfsTer17
XM_011536415.1:c.146del	XP_011534717.1:p.Gly49ValfsTer17
NM_001320424.1:c.146del	NP_001307353.1:p.Gly49ValfsTer17
NM_152328.4:c.761del	NP_689541.1:p.Gly254ValfsTer17
NM_199165.2:c.890del	NP_954634.1:p.Gly297ValfsTer17
XM_006720026.3:c.764del	XP_006720089.1:p.Gly255ValfsTer17
XM_011536412.2:c.893del	XP_011534714.1:p.Gly298ValfsTer17
XR_001750917.1:n.500del
NM_152328.5:c.761del MANE Select	NP_689541.1:p.Gly254ValfsTer17