Canonical Allele Identifier: CA2656867439

Gene: ADSL

Linked Data

• gnomAD v4: 22-40364940-G-GGGGGTGACAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364942_40364952dup , CM000684.2:g.40364942_40364952dup	GRCh38
NC_000022.10:g.40760946_40760956dup , CM000684.1:g.40760946_40760956dup	GRCh37
NC_000022.9:g.39090892_39090902dup	NCBI36
NG_007993.1:g.23443_23453dup
NG_007993.2:g.23443_23453dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*648_*658dup	ENSP00000485462.2:n.*648_*658dup
ENST00000623287.4:c.*679_*689dup	ENSP00000485437.1:n.*679_*689dup
ENST00000623632.4:c.945_955dup	ENSP00000485288.2:p.Asp319GlyfsTer7
ENST00000625194.4:c.1296_1306dup	ENSP00000485289.2:p.Asp436GlyfsTer7
ENST00000636433.1:n.1276_1286dup
ENST00000636714.1:c.1254_1264dup	ENSP00000490946.1:p.Asp422GlyfsTer7
ENST00000637666.2:c.1191+577_1191+587dup	ENSP00000489696.2:n.1191+577_1191+587dup
ENST00000637669.1:c.1254_1264dup	ENSP00000489728.1:p.Asp422GlyfsTer7
ENST00000639722.1:c.*950_*960dup	ENSP00000492828.1:n.*950_*960dup
ENST00000674592.1:n.2768_2778dup
ENST00000675622.1:n.4321_4331dup
ENST00000679609.1:c.*864_*874dup	ENSP00000506592.1:n.*864_*874dup
ENST00000679656.1:n.1939_1949dup
ENST00000679723.1:c.1209_1219dup	ENSP00000505155.1:p.Asp407GlyfsTer7
ENST00000679845.1:n.1562_1572dup
ENST00000679904.1:n.1650_1660dup
ENST00000680378.1:c.1341_1351dup	ENSP00000505556.1:p.Asp451GlyfsTer7
ENST00000680444.1:c.*617_*627dup	ENSP00000505298.1:n.*617_*627dup
ENST00000680978.1:c.1254_1264dup	ENSP00000505244.1:p.Asp422GlyfsTer7
ENST00000681003.1:n.717_727dup
ENST00000681159.1:n.2658_2668dup
ENST00000216194.11:c.1296_1306dup	ENSP00000216194.8:p.Asp436GlyfsTer7
ENST00000342312.9:c.1191+577_1191+587dup	ENSP00000341429.6:n.1191+577_1191+587dup
ENST00000623063.3:c.1254_1264dup MANE Select	ENSP00000485525.1:p.Asp422GlyfsTer7
ENST00000623387.1:n.385_395dup
ENST00000625194.3:c.883_893dup
NM_000026.2:c.1254_1264dup	NP_000017.1:p.Asp422GlyfsTer7
NM_001123378.1:c.1191+577_1191+587dup	NP_001116850.1:n.1191+577_1191+587dup
XM_011529976.1:c.1254_1264dup	XP_011528278.1:p.Asp422GlyfsTer7
XM_011529977.1:c.1254_1264dup	XP_011528279.1:p.Asp422GlyfsTer7
XM_011529978.1:c.1191+577_1191+587dup	XP_011528280.1:n.1191+577_1191+587dup
XM_011529979.1:c.1254_1264dup	XP_011528281.1:p.Asp422GlyfsTer7
XM_011529980.1:c.1191+577_1191+587dup	XP_011528282.1:n.1191+577_1191+587dup
XM_011529981.1:c.789_799dup	XP_011528283.1:p.Asp267GlyfsTer7
XM_011529982.1:c.423_433dup	XP_011528284.1:p.Asp145GlyfsTer7
XR_937824.1:n.1344_1354dup
XR_937825.1:n.1281+577_1281+587dup
NM_000026.3:c.1254_1264dup	NP_000017.1:p.Asp422GlyfsTer7
NM_001123378.2:c.1191+577_1191+587dup	NP_001116850.1:n.1191+577_1191+587dup
NM_001317923.1:c.1062_1072dup	NP_001304852.1:p.Asp358GlyfsTer7
NM_001363840.1:c.1254_1264dup	NP_001350769.1:p.Asp422GlyfsTer7
NR_134256.1:n.1344_1354dup
XM_011529977.3:c.1254_1264dup	XP_011528279.1:p.Asp422GlyfsTer7
XM_011529980.3:c.1191+577_1191+587dup	XP_011528282.1:n.1191+577_1191+587dup
XM_017028636.1:c.1209_1219dup	XP_016884125.1:p.Asp407GlyfsTer7
XM_017028637.1:c.1209_1219dup	XP_016884126.1:p.Asp407GlyfsTer7
XM_017028638.1:c.789_799dup	XP_016884127.1:p.Asp267GlyfsTer7
XM_017028639.2:c.789_799dup	XP_016884128.1:p.Asp267GlyfsTer7
XM_017028640.1:c.423_433dup	XP_016884129.1:p.Asp145GlyfsTer7
XM_024452166.1:c.1146+577_1146+587dup	XP_024307934.1:n.1146+577_1146+587dup
XR_001755176.2:n.1496_1506dup
XR_002958670.1:n.1281_1291dup
XR_937825.3:n.1279+577_1279+587dup
NM_000026.4:c.1254_1264dup MANE Select	NP_000017.1:p.Asp422GlyfsTer7
NM_001363840.2:c.1254_1264dup	NP_001350769.1:p.Asp422GlyfsTer7
NM_001123378.3:c.1191+577_1191+587dup	NP_001116850.1:n.1191+577_1191+587dup
NM_001317923.2:c.1062_1072dup	NP_001304852.1:p.Asp358GlyfsTer7
NM_001363840.3:c.1254_1264dup	NP_001350769.1:p.Asp422GlyfsTer7
NR_134256.2:n.1344_1354dup