Canonical Allele Identifier: CA2405724658

Gene: ADSL

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40365062_40365063delinsCT , CM000684.2:g.40365062_40365063delinsCT	GRCh38
NC_000022.10:g.40761066_40761067delinsCT , CM000684.1:g.40761066_40761067delinsCT	GRCh37
NC_000022.9:g.39091012_39091013delinsCT	NCBI36
NG_007993.1:g.23563_23564delinsCT
NG_007993.2:g.23563_23564delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*762+6_*762+7delinsCT	ENSP00000485462.2:n.*762+6_*762+7delinsCT
ENST00000623287.4:c.*793+6_*793+7delinsCT	ENSP00000485437.1:n.*793+6_*793+7delinsCT
ENST00000623632.4:c.1059+6_1059+7delinsCT	ENSP00000485288.2:n.1059+6_1059+7delinsCT
ENST00000625194.4:c.1410+6_1410+7delinsCT	ENSP00000485289.2:n.1410+6_1410+7delinsCT
ENST00000636433.1:n.1390+6_1390+7delinsCT
ENST00000636714.1:c.1368+6_1368+7delinsCT	ENSP00000490946.1:n.1368+6_1368+7delinsCT
ENST00000637666.2:c.1191+697_1191+698delinsCT	ENSP00000489696.2:n.1191+697_1191+698delinsCT
ENST00000637669.1:c.1368+6_1368+7delinsCT	ENSP00000489728.1:n.1368+6_1368+7delinsCT
ENST00000639722.1:c.*1064+6_*1064+7delinsCT	ENSP00000492828.1:n.*1064+6_*1064+7delinsCT
ENST00000674592.1:n.2882+6_2882+7delinsCT
ENST00000675622.1:n.4435+6_4435+7delinsCT
ENST00000679609.1:c.*978+6_*978+7delinsCT	ENSP00000506592.1:n.*978+6_*978+7delinsCT
ENST00000679656.1:n.2053+6_2053+7delinsCT
ENST00000679723.1:c.1323+6_1323+7delinsCT	ENSP00000505155.1:n.1323+6_1323+7delinsCT
ENST00000679845.1:n.1676+6_1676+7delinsCT
ENST00000679904.1:n.1764+6_1764+7delinsCT
ENST00000680378.1:c.1455+6_1455+7delinsCT	ENSP00000505556.1:n.1455+6_1455+7delinsCT
ENST00000680444.1:c.*731+6_*731+7delinsCT	ENSP00000505298.1:n.*731+6_*731+7delinsCT
ENST00000680978.1:c.1368+6_1368+7delinsCT	ENSP00000505244.1:n.1368+6_1368+7delinsCT
ENST00000681003.1:n.831+6_831+7delinsCT
ENST00000681159.1:n.2772+6_2772+7delinsCT
ENST00000216194.11:c.1410+6_1410+7delinsCT	ENSP00000216194.8:n.1410+6_1410+7delinsCT
ENST00000342312.9:c.1191+697_1191+698delinsCT	ENSP00000341429.6:n.1191+697_1191+698delinsCT
ENST00000423176.6:c.95+6_95+7delinsCT
ENST00000498234.2:c.26+6_26+7delinsCT
ENST00000623063.3:c.1368+6_1368+7delinsCT MANE Select	ENSP00000485525.1:n.1368+6_1368+7delinsCT
ENST00000623387.1:n.499+6_499+7delinsCT
ENST00000623869.3:c.99+6_99+7delinsCT	ENSP00000485211.1:n.99+6_99+7delinsCT
ENST00000624027.1:c.95+6_95+7delinsCT
ENST00000625194.3:c.997+6_997+7delinsCT
NM_000026.2:c.1368+6_1368+7delinsCT	NP_000017.1:n.1368+6_1368+7delinsCT
NM_001123378.1:c.1191+697_1191+698delinsCT	NP_001116850.1:n.1191+697_1191+698delinsCT
XM_011529976.1:c.1368+6_1368+7delinsCT	XP_011528278.1:n.1368+6_1368+7delinsCT
XM_011529977.1:c.1368+6_1368+7delinsCT	XP_011528279.1:n.1368+6_1368+7delinsCT
XM_011529978.1:c.1191+697_1191+698delinsCT	XP_011528280.1:n.1191+697_1191+698delinsCT
XM_011529979.1:c.1368+6_1368+7delinsCT	XP_011528281.1:n.1368+6_1368+7delinsCT
XM_011529980.1:c.1191+697_1191+698delinsCT	XP_011528282.1:n.1191+697_1191+698delinsCT
XM_011529981.1:c.903+6_903+7delinsCT	XP_011528283.1:n.903+6_903+7delinsCT
XM_011529982.1:c.537+6_537+7delinsCT	XP_011528284.1:n.537+6_537+7delinsCT
XR_937824.1:n.1458+6_1458+7delinsCT
XR_937825.1:n.1281+697_1281+698delinsCT
NM_000026.3:c.1368+6_1368+7delinsCT	NP_000017.1:n.1368+6_1368+7delinsCT
NM_001123378.2:c.1191+697_1191+698delinsCT	NP_001116850.1:n.1191+697_1191+698delinsCT
NM_001317923.1:c.1176+6_1176+7delinsCT	NP_001304852.1:n.1176+6_1176+7delinsCT
NM_001363840.1:c.1368+6_1368+7delinsCT	NP_001350769.1:n.1368+6_1368+7delinsCT
NR_134256.1:n.1458+6_1458+7delinsCT
XM_011529977.3:c.1368+6_1368+7delinsCT	XP_011528279.1:n.1368+6_1368+7delinsCT
XM_011529980.3:c.1191+697_1191+698delinsCT	XP_011528282.1:n.1191+697_1191+698delinsCT
XM_017028636.1:c.1323+6_1323+7delinsCT	XP_016884125.1:n.1323+6_1323+7delinsCT
XM_017028637.1:c.1323+6_1323+7delinsCT	XP_016884126.1:n.1323+6_1323+7delinsCT
XM_017028638.1:c.903+6_903+7delinsCT	XP_016884127.1:n.903+6_903+7delinsCT
XM_017028639.2:c.903+6_903+7delinsCT	XP_016884128.1:n.903+6_903+7delinsCT
XM_017028640.1:c.537+6_537+7delinsCT	XP_016884129.1:n.537+6_537+7delinsCT
XM_024452166.1:c.1146+697_1146+698delinsCT	XP_024307934.1:n.1146+697_1146+698delinsCT
XR_001755176.2:n.1610+6_1610+7delinsCT
XR_002958670.1:n.1395+6_1395+7delinsCT
XR_937825.3:n.1279+697_1279+698delinsCT
NM_000026.4:c.1368+6_1368+7delinsCT MANE Select	NP_000017.1:n.1368+6_1368+7delinsCT
NM_001363840.2:c.1368+6_1368+7delinsCT	NP_001350769.1:n.1368+6_1368+7delinsCT
NM_001123378.3:c.1191+697_1191+698delinsCT	NP_001116850.1:n.1191+697_1191+698delinsCT
NM_001317923.2:c.1176+6_1176+7delinsCT	NP_001304852.1:n.1176+6_1176+7delinsCT
NM_001363840.3:c.1368+6_1368+7delinsCT	NP_001350769.1:n.1368+6_1368+7delinsCT
NR_134256.2:n.1458+6_1458+7delinsCT