Canonical Allele Identifier: CA2405724579

Gene: ADSL

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364897_40364899delinsCAG , CM000684.2:g.40364897_40364899delinsCAG	GRCh38
NC_000022.10:g.40760901_40760903delinsCAG , CM000684.1:g.40760901_40760903delinsCAG	GRCh37
NC_000022.9:g.39090847_39090849delinsCAG	NCBI36
NG_007993.1:g.23398_23400delinsCAG
NG_007993.2:g.23398_23400delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*603_*605delinsCAG	ENSP00000485462.2:n.*603_*605delinsCAG
ENST00000623287.4:c.*634_*636delinsCAG	ENSP00000485437.1:n.*634_*636delinsCAG
ENST00000623632.4:c.900_902delinsCAG	ENSP00000485288.2:p.Ile300=
ENST00000625194.4:c.1251_1253delinsCAG	ENSP00000485289.2:p.Ile417=
ENST00000636433.1:n.1231_1233delinsCAG
ENST00000636714.1:c.1209_1211delinsCAG	ENSP00000490946.1:p.Ile403=
ENST00000637666.2:c.1191+532_1191+534delinsCAG	ENSP00000489696.2:n.1191+532_1191+534delinsCAG
ENST00000637669.1:c.1209_1211delinsCAG	ENSP00000489728.1:p.Ile403=
ENST00000639722.1:c.*905_*907delinsCAG	ENSP00000492828.1:n.*905_*907delinsCAG
ENST00000674592.1:n.2723_2725delinsCAG
ENST00000675622.1:n.4276_4278delinsCAG
ENST00000679609.1:c.*819_*821delinsCAG	ENSP00000506592.1:n.*819_*821delinsCAG
ENST00000679656.1:n.1894_1896delinsCAG
ENST00000679723.1:c.1164_1166delinsCAG	ENSP00000505155.1:p.Ile388=
ENST00000679845.1:n.1517_1519delinsCAG
ENST00000679904.1:n.1605_1607delinsCAG
ENST00000680378.1:c.1296_1298delinsCAG	ENSP00000505556.1:p.Ile432=
ENST00000680444.1:c.*572_*574delinsCAG	ENSP00000505298.1:n.*572_*574delinsCAG
ENST00000680978.1:c.1209_1211delinsCAG	ENSP00000505244.1:p.Ile403=
ENST00000681003.1:n.672_674delinsCAG
ENST00000681159.1:n.2613_2615delinsCAG
ENST00000216194.11:c.1251_1253delinsCAG	ENSP00000216194.8:p.Ile417=
ENST00000342312.9:c.1191+532_1191+534delinsCAG	ENSP00000341429.6:n.1191+532_1191+534delinsCAG
ENST00000623063.3:c.1209_1211delinsCAG MANE Select	ENSP00000485525.1:p.Ile403=
ENST00000623387.1:n.340_342delinsCAG
ENST00000625194.3:c.838_840delinsCAG
NM_000026.2:c.1209_1211delinsCAG	NP_000017.1:p.Ile403=
NM_001123378.1:c.1191+532_1191+534delinsCAG	NP_001116850.1:n.1191+532_1191+534delinsCAG
XM_011529976.1:c.1209_1211delinsCAG	XP_011528278.1:p.Ile403=
XM_011529977.1:c.1209_1211delinsCAG	XP_011528279.1:p.Ile403=
XM_011529978.1:c.1191+532_1191+534delinsCAG	XP_011528280.1:n.1191+532_1191+534delinsCAG
XM_011529979.1:c.1209_1211delinsCAG	XP_011528281.1:p.Ile403=
XM_011529980.1:c.1191+532_1191+534delinsCAG	XP_011528282.1:n.1191+532_1191+534delinsCAG
XM_011529981.1:c.744_746delinsCAG	XP_011528283.1:p.Ile248=
XM_011529982.1:c.378_380delinsCAG	XP_011528284.1:p.Ile126=
XR_937824.1:n.1299_1301delinsCAG
XR_937825.1:n.1281+532_1281+534delinsCAG
NM_000026.3:c.1209_1211delinsCAG	NP_000017.1:p.Ile403=
NM_001123378.2:c.1191+532_1191+534delinsCAG	NP_001116850.1:n.1191+532_1191+534delinsCAG
NM_001317923.1:c.1017_1019delinsCAG	NP_001304852.1:p.Ile339=
NM_001363840.1:c.1209_1211delinsCAG	NP_001350769.1:p.Ile403=
NR_134256.1:n.1299_1301delinsCAG
XM_011529977.3:c.1209_1211delinsCAG	XP_011528279.1:p.Ile403=
XM_011529980.3:c.1191+532_1191+534delinsCAG	XP_011528282.1:n.1191+532_1191+534delinsCAG
XM_017028636.1:c.1164_1166delinsCAG	XP_016884125.1:p.Ile388=
XM_017028637.1:c.1164_1166delinsCAG	XP_016884126.1:p.Ile388=
XM_017028638.1:c.744_746delinsCAG	XP_016884127.1:p.Ile248=
XM_017028639.2:c.744_746delinsCAG	XP_016884128.1:p.Ile248=
XM_017028640.1:c.378_380delinsCAG	XP_016884129.1:p.Ile126=
XM_024452166.1:c.1146+532_1146+534delinsCAG	XP_024307934.1:n.1146+532_1146+534delinsCAG
XR_001755176.2:n.1451_1453delinsCAG
XR_002958670.1:n.1236_1238delinsCAG
XR_937825.3:n.1279+532_1279+534delinsCAG
NM_000026.4:c.1209_1211delinsCAG MANE Select	NP_000017.1:p.Ile403=
NM_001363840.2:c.1209_1211delinsCAG	NP_001350769.1:p.Ile403=
NM_001123378.3:c.1191+532_1191+534delinsCAG	NP_001116850.1:n.1191+532_1191+534delinsCAG
NM_001317923.2:c.1017_1019delinsCAG	NP_001304852.1:p.Ile339=
NM_001363840.3:c.1209_1211delinsCAG	NP_001350769.1:p.Ile403=
NR_134256.2:n.1299_1301delinsCAG