Canonical Allele Identifier: CA2697552775
Gene: ADSL HGNC NCBI

Linked Data

ClinVar Variation Id: 2752273
ClinVar RCV Id: RCV003498364

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.40365034dup , CM000684.2:g.40365034dup GRCh38
NC_000022.10:g.40761038dup , CM000684.1:g.40761038dup GRCh37
NC_000022.9:g.39090984dup NCBI36
NG_007993.1:g.23535dup
NG_007993.2:g.23535dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000480775.3:c.*740dup ENSP00000485462.2:n.*740dup
ENST00000623287.4:c.*771dup ENSP00000485437.1:n.*771dup
ENST00000623632.4:c.1037dup ENSP00000485288.2:p.Thr347HisfsTer24
ENST00000625194.4:c.1388dup ENSP00000485289.2:p.Thr464HisfsTer24
ENST00000636433.1:n.1368dup
ENST00000636714.1:c.1346dup ENSP00000490946.1:p.Thr450HisfsTer24
ENST00000637666.2:c.1191+669dup ENSP00000489696.2:n.1191+669dup
ENST00000637669.1:c.1346dup ENSP00000489728.1:p.Thr450HisfsTer24
ENST00000639722.1:c.*1042dup ENSP00000492828.1:n.*1042dup
ENST00000674592.1:n.2860dup
ENST00000675622.1:n.4413dup
ENST00000679609.1:c.*956dup ENSP00000506592.1:n.*956dup
ENST00000679656.1:n.2031dup
ENST00000679723.1:c.1301dup ENSP00000505155.1:p.Thr435HisfsTer24
ENST00000679845.1:n.1654dup
ENST00000679904.1:n.1742dup
ENST00000680378.1:c.1433dup ENSP00000505556.1:p.Thr479HisfsTer24
ENST00000680444.1:c.*709dup ENSP00000505298.1:n.*709dup
ENST00000680978.1:c.1346dup ENSP00000505244.1:p.Thr450HisfsTer24
ENST00000681003.1:n.809dup
ENST00000681159.1:n.2750dup
ENST00000216194.11:c.1388dup ENSP00000216194.8:p.Thr464HisfsTer24
ENST00000342312.9:c.1191+669dup ENSP00000341429.6:n.1191+669dup
ENST00000423176.6:c.73dup
ENST00000498234.2:c.4dup
ENST00000623063.3:c.1346dup MANE Select ENSP00000485525.1:p.Thr450HisfsTer24
ENST00000623387.1:n.477dup
ENST00000623869.3:c.77dup ENSP00000485211.1:p.Thr27HisfsTer24
ENST00000624027.1:c.73dup
ENST00000625194.3:c.975dup
NM_000026.2:c.1346dup NP_000017.1:p.Thr450HisfsTer24
NM_001123378.1:c.1191+669dup NP_001116850.1:n.1191+669dup
XM_011529976.1:c.1346dup XP_011528278.1:p.Thr450HisfsTer24
XM_011529977.1:c.1346dup XP_011528279.1:p.Thr450HisfsTer24
XM_011529978.1:c.1191+669dup XP_011528280.1:n.1191+669dup
XM_011529979.1:c.1346dup XP_011528281.1:p.Thr450HisfsTer24
XM_011529980.1:c.1191+669dup XP_011528282.1:n.1191+669dup
XM_011529981.1:c.881dup XP_011528283.1:p.Thr295HisfsTer24
XM_011529982.1:c.515dup XP_011528284.1:p.Thr173HisfsTer24
XR_937824.1:n.1436dup
XR_937825.1:n.1281+669dup
NM_000026.3:c.1346dup NP_000017.1:p.Thr450HisfsTer24
NM_001123378.2:c.1191+669dup NP_001116850.1:n.1191+669dup
NM_001317923.1:c.1154dup NP_001304852.1:p.Thr386HisfsTer24
NM_001363840.1:c.1346dup NP_001350769.1:p.Thr450HisfsTer24
NR_134256.1:n.1436dup
XM_011529977.3:c.1346dup XP_011528279.1:p.Thr450HisfsTer24
XM_011529980.3:c.1191+669dup XP_011528282.1:n.1191+669dup
XM_017028636.1:c.1301dup XP_016884125.1:p.Thr435HisfsTer24
XM_017028637.1:c.1301dup XP_016884126.1:p.Thr435HisfsTer24
XM_017028638.1:c.881dup XP_016884127.1:p.Thr295HisfsTer24
XM_017028639.2:c.881dup XP_016884128.1:p.Thr295HisfsTer24
XM_017028640.1:c.515dup XP_016884129.1:p.Thr173HisfsTer24
XM_024452166.1:c.1146+669dup XP_024307934.1:n.1146+669dup
XR_001755176.2:n.1588dup
XR_002958670.1:n.1373dup
XR_937825.3:n.1279+669dup
NM_000026.4:c.1346dup MANE Select NP_000017.1:p.Thr450HisfsTer24
NM_001363840.2:c.1346dup NP_001350769.1:p.Thr450HisfsTer24
NM_001123378.3:c.1191+669dup NP_001116850.1:n.1191+669dup
NM_001317923.2:c.1154dup NP_001304852.1:p.Thr386HisfsTer24
NM_001363840.3:c.1346dup NP_001350769.1:p.Thr450HisfsTer24
NR_134256.2:n.1436dup