Canonical Allele Identifier: CA2405724633

Gene: ADSL

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40365024_40365027delinsCCTT , CM000684.2:g.40365024_40365027delinsCCTT	GRCh38
NC_000022.10:g.40761028_40761031delinsCCTT , CM000684.1:g.40761028_40761031delinsCCTT	GRCh37
NC_000022.9:g.39090974_39090977delinsCCTT	NCBI36
NG_007993.1:g.23525_23528delinsCCTT
NG_007993.2:g.23525_23528delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*730_*733delinsCCTT	ENSP00000485462.2:n.*730_*733delinsCCTT
ENST00000623287.4:c.*761_*764delinsCCTT	ENSP00000485437.1:n.*761_*764delinsCCTT
ENST00000623632.4:c.1027_1030delinsCCTT	ENSP00000485288.2:p.Pro343=
ENST00000625194.4:c.1378_1381delinsCCTT	ENSP00000485289.2:p.Pro460=
ENST00000636433.1:n.1358_1361delinsCCTT
ENST00000636714.1:c.1336_1339delinsCCTT	ENSP00000490946.1:p.Pro446=
ENST00000637666.2:c.1191+659_1191+662delinsCCTT	ENSP00000489696.2:n.1191+659_1191+662delinsCCTT
ENST00000637669.1:c.1336_1339delinsCCTT	ENSP00000489728.1:p.Pro446=
ENST00000639722.1:c.*1032_*1035delinsCCTT	ENSP00000492828.1:n.*1032_*1035delinsCCTT
ENST00000674592.1:n.2850_2853delinsCCTT
ENST00000675622.1:n.4403_4406delinsCCTT
ENST00000679609.1:c.*946_*949delinsCCTT	ENSP00000506592.1:n.*946_*949delinsCCTT
ENST00000679656.1:n.2021_2024delinsCCTT
ENST00000679723.1:c.1291_1294delinsCCTT	ENSP00000505155.1:p.Pro431=
ENST00000679845.1:n.1644_1647delinsCCTT
ENST00000679904.1:n.1732_1735delinsCCTT
ENST00000680378.1:c.1423_1426delinsCCTT	ENSP00000505556.1:p.Pro475=
ENST00000680444.1:c.*699_*702delinsCCTT	ENSP00000505298.1:n.*699_*702delinsCCTT
ENST00000680978.1:c.1336_1339delinsCCTT	ENSP00000505244.1:p.Pro446=
ENST00000681003.1:n.799_802delinsCCTT
ENST00000681159.1:n.2740_2743delinsCCTT
ENST00000216194.11:c.1378_1381delinsCCTT	ENSP00000216194.8:p.Pro460=
ENST00000342312.9:c.1191+659_1191+662delinsCCTT	ENSP00000341429.6:n.1191+659_1191+662delinsCCTT
ENST00000423176.6:c.63_66delinsCCTT
ENST00000623063.3:c.1336_1339delinsCCTT MANE Select	ENSP00000485525.1:p.Pro446=
ENST00000623387.1:n.467_470delinsCCTT
ENST00000623869.3:c.67_70delinsCCTT	ENSP00000485211.1:p.Pro23=
ENST00000624027.1:c.63_66delinsCCTT
ENST00000625194.3:c.965_968delinsCCTT
NM_000026.2:c.1336_1339delinsCCTT	NP_000017.1:p.Pro446=
NM_001123378.1:c.1191+659_1191+662delinsCCTT	NP_001116850.1:n.1191+659_1191+662delinsCCTT
XM_011529976.1:c.1336_1339delinsCCTT	XP_011528278.1:p.Pro446=
XM_011529977.1:c.1336_1339delinsCCTT	XP_011528279.1:p.Pro446=
XM_011529978.1:c.1191+659_1191+662delinsCCTT	XP_011528280.1:n.1191+659_1191+662delinsCCTT
XM_011529979.1:c.1336_1339delinsCCTT	XP_011528281.1:p.Pro446=
XM_011529980.1:c.1191+659_1191+662delinsCCTT	XP_011528282.1:n.1191+659_1191+662delinsCCTT
XM_011529981.1:c.871_874delinsCCTT	XP_011528283.1:p.Pro291=
XM_011529982.1:c.505_508delinsCCTT	XP_011528284.1:p.Pro169=
XR_937824.1:n.1426_1429delinsCCTT
XR_937825.1:n.1281+659_1281+662delinsCCTT
NM_000026.3:c.1336_1339delinsCCTT	NP_000017.1:p.Pro446=
NM_001123378.2:c.1191+659_1191+662delinsCCTT	NP_001116850.1:n.1191+659_1191+662delinsCCTT
NM_001317923.1:c.1144_1147delinsCCTT	NP_001304852.1:p.Pro382=
NM_001363840.1:c.1336_1339delinsCCTT	NP_001350769.1:p.Pro446=
NR_134256.1:n.1426_1429delinsCCTT
XM_011529977.3:c.1336_1339delinsCCTT	XP_011528279.1:p.Pro446=
XM_011529980.3:c.1191+659_1191+662delinsCCTT	XP_011528282.1:n.1191+659_1191+662delinsCCTT
XM_017028636.1:c.1291_1294delinsCCTT	XP_016884125.1:p.Pro431=
XM_017028637.1:c.1291_1294delinsCCTT	XP_016884126.1:p.Pro431=
XM_017028638.1:c.871_874delinsCCTT	XP_016884127.1:p.Pro291=
XM_017028639.2:c.871_874delinsCCTT	XP_016884128.1:p.Pro291=
XM_017028640.1:c.505_508delinsCCTT	XP_016884129.1:p.Pro169=
XM_024452166.1:c.1146+659_1146+662delinsCCTT	XP_024307934.1:n.1146+659_1146+662delinsCCTT
XR_001755176.2:n.1578_1581delinsCCTT
XR_002958670.1:n.1363_1366delinsCCTT
XR_937825.3:n.1279+659_1279+662delinsCCTT
NM_000026.4:c.1336_1339delinsCCTT MANE Select	NP_000017.1:p.Pro446=
NM_001363840.2:c.1336_1339delinsCCTT	NP_001350769.1:p.Pro446=
NM_001123378.3:c.1191+659_1191+662delinsCCTT	NP_001116850.1:n.1191+659_1191+662delinsCCTT
NM_001317923.2:c.1144_1147delinsCCTT	NP_001304852.1:p.Pro382=
NM_001363840.3:c.1336_1339delinsCCTT	NP_001350769.1:p.Pro446=
NR_134256.2:n.1426_1429delinsCCTT