Canonical Allele Identifier: CA7373827

Gene: ADSS1

Linked Data

• ClinVar Variation Id: 1681960
• ClinVar RCV Id: RCV002236702
• dbSNP Id: rs769542442
• ExAC: 14:105207521 G / GC
• gnomAD v2: 14-105207521-G-GC
• gnomAD v3: 14-104741184-G-GC
• gnomAD v4: 14-104741184-G-GC
• COSMIC: COSM3734862 ; COSM6044795
• MyVariant Identifiers: chr14:g.105207522_105207523insC (hg19) ; chr14:g.105207521_105207522insC (hg19) ; chr14:g.104741184_104741185insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741191dup , CM000676.2:g.104741191dup	GRCh38
NC_000014.8:g.105207528dup , CM000676.1:g.105207528dup	GRCh37
NC_000014.7:g.104278573dup	NCBI36
NG_051175.1:g.21995dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710323.1:c.741dup	ENSP00000518203.1:p.Lys248GlnfsTer16
ENST00000330877.7:c.741dup MANE Select	ENSP00000331260.2:p.Lys248GlnfsTer16
ENST00000330877.6:c.741dup	ENSP00000331260.2:p.Lys248GlnfsTer16
ENST00000332972.9:c.870dup	ENSP00000333019.5:p.Lys291GlnfsTer16
ENST00000553540.5:c.853dup	ENSP00000450759.1:n.853dup
ENST00000555486.5:c.806dup	ENSP00000473778.1:n.806dup
ENST00000557582.5:n.1662dup
NM_152328.3:c.741dup	NP_689541.1:p.Lys248GlnfsTer16
NM_199165.1:c.870dup	NP_954634.1:p.Lys291GlnfsTer16
XM_006720026.2:c.744dup	XP_006720089.1:p.Lys249GlnfsTer16
XM_011536412.1:c.873dup	XP_011534714.1:p.Lys292GlnfsTer16
XM_011536413.1:c.558dup	XP_011534715.1:p.Lys187GlnfsTer16
XM_011536414.1:c.555dup	XP_011534716.1:p.Lys186GlnfsTer16
XM_011536415.1:c.126dup	XP_011534717.1:p.Lys43GlnfsTer16
NM_001320424.1:c.126dup	NP_001307353.1:p.Lys43GlnfsTer16
NM_152328.4:c.741dup	NP_689541.1:p.Lys248GlnfsTer16
NM_199165.2:c.870dup	NP_954634.1:p.Lys291GlnfsTer16
XM_006720026.3:c.744dup	XP_006720089.1:p.Lys249GlnfsTer16
XM_011536412.2:c.873dup	XP_011534714.1:p.Lys292GlnfsTer16
XR_001750917.1:n.524dup
NM_152328.5:c.741dup MANE Select	NP_689541.1:p.Lys248GlnfsTer16