Canonical Allele Identifier: CA2405724582

Gene: ADSL

Linked Data

• dbSNP Id: rs2044940728

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364900_40364903del , CM000684.2:g.40364900_40364903del	GRCh38
NC_000022.10:g.40760904_40760907del , CM000684.1:g.40760904_40760907del	GRCh37
NC_000022.9:g.39090850_39090853del	NCBI36
NG_007993.1:g.23401_23404del
NG_007993.2:g.23401_23404del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*606_*609del	ENSP00000485462.2:n.*606_*609del
ENST00000623287.4:c.*637_*640del	ENSP00000485437.1:n.*637_*640del
ENST00000623632.4:c.903_906del	ENSP00000485288.2:p.Arg301SerfsTer20
ENST00000625194.4:c.1254_1257del	ENSP00000485289.2:p.Arg418SerfsTer20
ENST00000636433.1:n.1234_1237del
ENST00000636714.1:c.1212_1215del	ENSP00000490946.1:p.Arg404SerfsTer20
ENST00000637666.2:c.1191+535_1191+538del	ENSP00000489696.2:n.1191+535_1191+538del
ENST00000637669.1:c.1212_1215del	ENSP00000489728.1:p.Arg404SerfsTer20
ENST00000639722.1:c.*908_*911del	ENSP00000492828.1:n.*908_*911del
ENST00000674592.1:n.2726_2729del
ENST00000675622.1:n.4279_4282del
ENST00000679609.1:c.*822_*825del	ENSP00000506592.1:n.*822_*825del
ENST00000679656.1:n.1897_1900del
ENST00000679723.1:c.1167_1170del	ENSP00000505155.1:p.Arg389SerfsTer20
ENST00000679845.1:n.1520_1523del
ENST00000679904.1:n.1608_1611del
ENST00000680378.1:c.1299_1302del	ENSP00000505556.1:p.Arg433SerfsTer20
ENST00000680444.1:c.*575_*578del	ENSP00000505298.1:n.*575_*578del
ENST00000680978.1:c.1212_1215del	ENSP00000505244.1:p.Arg404SerfsTer20
ENST00000681003.1:n.675_678del
ENST00000681159.1:n.2616_2619del
ENST00000216194.11:c.1254_1257del	ENSP00000216194.8:p.Arg418SerfsTer20
ENST00000342312.9:c.1191+535_1191+538del	ENSP00000341429.6:n.1191+535_1191+538del
ENST00000623063.3:c.1212_1215del MANE Select	ENSP00000485525.1:p.Arg404SerfsTer20
ENST00000623387.1:n.343_346del
ENST00000625194.3:c.841_844del
NM_000026.2:c.1212_1215del	NP_000017.1:p.Arg404SerfsTer20
NM_001123378.1:c.1191+535_1191+538del	NP_001116850.1:n.1191+535_1191+538del
XM_011529976.1:c.1212_1215del	XP_011528278.1:p.Arg404SerfsTer20
XM_011529977.1:c.1212_1215del	XP_011528279.1:p.Arg404SerfsTer20
XM_011529978.1:c.1191+535_1191+538del	XP_011528280.1:n.1191+535_1191+538del
XM_011529979.1:c.1212_1215del	XP_011528281.1:p.Arg404SerfsTer20
XM_011529980.1:c.1191+535_1191+538del	XP_011528282.1:n.1191+535_1191+538del
XM_011529981.1:c.747_750del	XP_011528283.1:p.Arg249SerfsTer20
XM_011529982.1:c.381_384del	XP_011528284.1:p.Arg127SerfsTer20
XR_937824.1:n.1302_1305del
XR_937825.1:n.1281+535_1281+538del
NM_000026.3:c.1212_1215del	NP_000017.1:p.Arg404SerfsTer20
NM_001123378.2:c.1191+535_1191+538del	NP_001116850.1:n.1191+535_1191+538del
NM_001317923.1:c.1020_1023del	NP_001304852.1:p.Arg340SerfsTer20
NM_001363840.1:c.1212_1215del	NP_001350769.1:p.Arg404SerfsTer20
NR_134256.1:n.1302_1305del
XM_011529977.3:c.1212_1215del	XP_011528279.1:p.Arg404SerfsTer20
XM_011529980.3:c.1191+535_1191+538del	XP_011528282.1:n.1191+535_1191+538del
XM_017028636.1:c.1167_1170del	XP_016884125.1:p.Arg389SerfsTer20
XM_017028637.1:c.1167_1170del	XP_016884126.1:p.Arg389SerfsTer20
XM_017028638.1:c.747_750del	XP_016884127.1:p.Arg249SerfsTer20
XM_017028639.2:c.747_750del	XP_016884128.1:p.Arg249SerfsTer20
XM_017028640.1:c.381_384del	XP_016884129.1:p.Arg127SerfsTer20
XM_024452166.1:c.1146+535_1146+538del	XP_024307934.1:n.1146+535_1146+538del
XR_001755176.2:n.1454_1457del
XR_002958670.1:n.1239_1242del
XR_937825.3:n.1279+535_1279+538del
NM_000026.4:c.1212_1215del MANE Select	NP_000017.1:p.Arg404SerfsTer20
NM_001363840.2:c.1212_1215del	NP_001350769.1:p.Arg404SerfsTer20
NM_001123378.3:c.1191+535_1191+538del	NP_001116850.1:n.1191+535_1191+538del
NM_001317923.2:c.1020_1023del	NP_001304852.1:p.Arg340SerfsTer20
NM_001363840.3:c.1212_1215del	NP_001350769.1:p.Arg404SerfsTer20
NR_134256.2:n.1302_1305del