Canonical Allele Identifier: CA2656867414

Gene: ADSL

Linked Data

• gnomAD v4: 22-40364897-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364898dup , CM000684.2:g.40364898dup	GRCh38
NC_000022.10:g.40760902dup , CM000684.1:g.40760902dup	GRCh37
NC_000022.9:g.39090848dup	NCBI36
NG_007993.1:g.23399dup
NG_007993.2:g.23399dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*604dup	ENSP00000485462.2:n.*604dup
ENST00000623287.4:c.*635dup	ENSP00000485437.1:n.*635dup
ENST00000623632.4:c.901dup	ENSP00000485288.2:p.Arg301LysfsTer12
ENST00000625194.4:c.1252dup	ENSP00000485289.2:p.Arg418LysfsTer12
ENST00000636433.1:n.1232dup
ENST00000636714.1:c.1210dup	ENSP00000490946.1:p.Arg404LysfsTer12
ENST00000637666.2:c.1191+533dup	ENSP00000489696.2:n.1191+533dup
ENST00000637669.1:c.1210dup	ENSP00000489728.1:p.Arg404LysfsTer12
ENST00000639722.1:c.*906dup	ENSP00000492828.1:n.*906dup
ENST00000674592.1:n.2724dup
ENST00000675622.1:n.4277dup
ENST00000679609.1:c.*820dup	ENSP00000506592.1:n.*820dup
ENST00000679656.1:n.1895dup
ENST00000679723.1:c.1165dup	ENSP00000505155.1:p.Arg389LysfsTer12
ENST00000679845.1:n.1518dup
ENST00000679904.1:n.1606dup
ENST00000680378.1:c.1297dup	ENSP00000505556.1:p.Arg433LysfsTer12
ENST00000680444.1:c.*573dup	ENSP00000505298.1:n.*573dup
ENST00000680978.1:c.1210dup	ENSP00000505244.1:p.Arg404LysfsTer12
ENST00000681003.1:n.673dup
ENST00000681159.1:n.2614dup
ENST00000216194.11:c.1252dup	ENSP00000216194.8:p.Arg418LysfsTer12
ENST00000342312.9:c.1191+533dup	ENSP00000341429.6:n.1191+533dup
ENST00000623063.3:c.1210dup MANE Select	ENSP00000485525.1:p.Arg404LysfsTer12
ENST00000623387.1:n.341dup
ENST00000625194.3:c.839dup
NM_000026.2:c.1210dup	NP_000017.1:p.Arg404LysfsTer12
NM_001123378.1:c.1191+533dup	NP_001116850.1:n.1191+533dup
XM_011529976.1:c.1210dup	XP_011528278.1:p.Arg404LysfsTer12
XM_011529977.1:c.1210dup	XP_011528279.1:p.Arg404LysfsTer12
XM_011529978.1:c.1191+533dup	XP_011528280.1:n.1191+533dup
XM_011529979.1:c.1210dup	XP_011528281.1:p.Arg404LysfsTer12
XM_011529980.1:c.1191+533dup	XP_011528282.1:n.1191+533dup
XM_011529981.1:c.745dup	XP_011528283.1:p.Arg249LysfsTer12
XM_011529982.1:c.379dup	XP_011528284.1:p.Arg127LysfsTer12
XR_937824.1:n.1300dup
XR_937825.1:n.1281+533dup
NM_000026.3:c.1210dup	NP_000017.1:p.Arg404LysfsTer12
NM_001123378.2:c.1191+533dup	NP_001116850.1:n.1191+533dup
NM_001317923.1:c.1018dup	NP_001304852.1:p.Arg340LysfsTer12
NM_001363840.1:c.1210dup	NP_001350769.1:p.Arg404LysfsTer12
NR_134256.1:n.1300dup
XM_011529977.3:c.1210dup	XP_011528279.1:p.Arg404LysfsTer12
XM_011529980.3:c.1191+533dup	XP_011528282.1:n.1191+533dup
XM_017028636.1:c.1165dup	XP_016884125.1:p.Arg389LysfsTer12
XM_017028637.1:c.1165dup	XP_016884126.1:p.Arg389LysfsTer12
XM_017028638.1:c.745dup	XP_016884127.1:p.Arg249LysfsTer12
XM_017028639.2:c.745dup	XP_016884128.1:p.Arg249LysfsTer12
XM_017028640.1:c.379dup	XP_016884129.1:p.Arg127LysfsTer12
XM_024452166.1:c.1146+533dup	XP_024307934.1:n.1146+533dup
XR_001755176.2:n.1452dup
XR_002958670.1:n.1237dup
XR_937825.3:n.1279+533dup
NM_000026.4:c.1210dup MANE Select	NP_000017.1:p.Arg404LysfsTer12
NM_001363840.2:c.1210dup	NP_001350769.1:p.Arg404LysfsTer12
NM_001123378.3:c.1191+533dup	NP_001116850.1:n.1191+533dup
NM_001317923.2:c.1018dup	NP_001304852.1:p.Arg340LysfsTer12
NM_001363840.3:c.1210dup	NP_001350769.1:p.Arg404LysfsTer12
NR_134256.2:n.1300dup