Canonical Allele Identifier: CA2843083335

Gene: ADSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741129dup , CM000676.2:g.104741129dup	GRCh38
NC_000014.8:g.105207466dup , CM000676.1:g.105207466dup	GRCh37
NC_000014.7:g.104278511dup	NCBI36
NG_051175.1:g.21933dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710323.1:c.679dup	ENSP00000518203.1:p.Arg227ProfsTer15
ENST00000330877.7:c.679dup MANE Select	ENSP00000331260.2:p.Arg227ProfsTer15
ENST00000330877.6:c.679dup	ENSP00000331260.2:p.Arg227ProfsTer15
ENST00000332972.9:c.808dup	ENSP00000333019.5:p.Arg270ProfsTer15
ENST00000553540.5:c.791dup	ENSP00000450759.1:n.791dup
ENST00000555486.5:c.744dup	ENSP00000473778.1:n.744dup
ENST00000557582.5:n.1600dup
NM_152328.3:c.679dup	NP_689541.1:p.Arg227ProfsTer15
NM_199165.1:c.808dup	NP_954634.1:p.Arg270ProfsTer15
XM_006720026.2:c.682dup	XP_006720089.1:p.Arg228ProfsTer15
XM_011536412.1:c.811dup	XP_011534714.1:p.Arg271ProfsTer15
XM_011536413.1:c.496dup	XP_011534715.1:p.Arg166ProfsTer15
XM_011536414.1:c.493dup	XP_011534716.1:p.Arg165ProfsTer15
XM_011536415.1:c.64dup	XP_011534717.1:p.Arg22ProfsTer15
NM_001320424.1:c.64dup	NP_001307353.1:p.Arg22ProfsTer15
NM_152328.4:c.679dup	NP_689541.1:p.Arg227ProfsTer15
NM_199165.2:c.808dup	NP_954634.1:p.Arg270ProfsTer15
XM_006720026.3:c.682dup	XP_006720089.1:p.Arg228ProfsTer15
XM_011536412.2:c.811dup	XP_011534714.1:p.Arg271ProfsTer15
NM_152328.5:c.679dup MANE Select	NP_689541.1:p.Arg227ProfsTer15