Canonical Allele Identifier: CA10247969

Gene: ADSL

Linked Data

• dbSNP Id: rs760899856
• ExAC: 22:40760935 AAG / A
• gnomAD v2: 22-40760935-AAG-A
• gnomAD v4: 22-40364931-AAG-A
• MyVariant Identifiers: chr22:g.40760936_40760937del (hg19) ; chr22:g.40364932_40364933del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364932_40364933del , CM000684.2:g.40364932_40364933del	GRCh38
NC_000022.10:g.40760936_40760937del , CM000684.1:g.40760936_40760937del	GRCh37
NC_000022.9:g.39090882_39090883del	NCBI36
NG_007993.1:g.23433_23434del
NG_007993.2:g.23433_23434del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*638_*639del	ENSP00000485462.2:n.*638_*639del
ENST00000623287.4:c.*669_*670del	ENSP00000485437.1:n.*669_*670del
ENST00000623632.4:c.935_936del	ENSP00000485288.2:p.Lys312ThrfsTer5
ENST00000625194.4:c.1286_1287del	ENSP00000485289.2:p.Lys429ThrfsTer5
ENST00000636433.1:n.1266_1267del
ENST00000636714.1:c.1244_1245del	ENSP00000490946.1:p.Lys415ThrfsTer5
ENST00000637666.2:c.1191+567_1191+568del	ENSP00000489696.2:n.1191+567_1191+568del
ENST00000637669.1:c.1244_1245del	ENSP00000489728.1:p.Lys415ThrfsTer5
ENST00000639722.1:c.*940_*941del	ENSP00000492828.1:n.*940_*941del
ENST00000674592.1:n.2758_2759del
ENST00000675622.1:n.4311_4312del
ENST00000679609.1:c.*854_*855del	ENSP00000506592.1:n.*854_*855del
ENST00000679656.1:n.1929_1930del
ENST00000679723.1:c.1199_1200del	ENSP00000505155.1:p.Lys400ThrfsTer5
ENST00000679845.1:n.1552_1553del
ENST00000679904.1:n.1640_1641del
ENST00000680378.1:c.1331_1332del	ENSP00000505556.1:p.Lys444ThrfsTer5
ENST00000680444.1:c.*607_*608del	ENSP00000505298.1:n.*607_*608del
ENST00000680978.1:c.1244_1245del	ENSP00000505244.1:p.Lys415ThrfsTer5
ENST00000681003.1:n.707_708del
ENST00000681159.1:n.2648_2649del
ENST00000216194.11:c.1286_1287del	ENSP00000216194.8:p.Lys429ThrfsTer5
ENST00000342312.9:c.1191+567_1191+568del	ENSP00000341429.6:n.1191+567_1191+568del
ENST00000623063.3:c.1244_1245del MANE Select	ENSP00000485525.1:p.Lys415ThrfsTer5
ENST00000623387.1:n.375_376del
ENST00000625194.3:c.873_874del
NM_000026.2:c.1244_1245del	NP_000017.1:p.Lys415ThrfsTer5
NM_001123378.1:c.1191+567_1191+568del	NP_001116850.1:n.1191+567_1191+568del
XM_011529976.1:c.1244_1245del	XP_011528278.1:p.Lys415ThrfsTer5
XM_011529977.1:c.1244_1245del	XP_011528279.1:p.Lys415ThrfsTer5
XM_011529978.1:c.1191+567_1191+568del	XP_011528280.1:n.1191+567_1191+568del
XM_011529979.1:c.1244_1245del	XP_011528281.1:p.Lys415ThrfsTer5
XM_011529980.1:c.1191+567_1191+568del	XP_011528282.1:n.1191+567_1191+568del
XM_011529981.1:c.779_780del	XP_011528283.1:p.Lys260ThrfsTer5
XM_011529982.1:c.413_414del	XP_011528284.1:p.Lys138ThrfsTer5
XR_937824.1:n.1334_1335del
XR_937825.1:n.1281+567_1281+568del
NM_000026.3:c.1244_1245del	NP_000017.1:p.Lys415ThrfsTer5
NM_001123378.2:c.1191+567_1191+568del	NP_001116850.1:n.1191+567_1191+568del
NM_001317923.1:c.1052_1053del	NP_001304852.1:p.Lys351ThrfsTer5
NM_001363840.1:c.1244_1245del	NP_001350769.1:p.Lys415ThrfsTer5
NR_134256.1:n.1334_1335del
XM_011529977.3:c.1244_1245del	XP_011528279.1:p.Lys415ThrfsTer5
XM_011529980.3:c.1191+567_1191+568del	XP_011528282.1:n.1191+567_1191+568del
XM_017028636.1:c.1199_1200del	XP_016884125.1:p.Lys400ThrfsTer5
XM_017028637.1:c.1199_1200del	XP_016884126.1:p.Lys400ThrfsTer5
XM_017028638.1:c.779_780del	XP_016884127.1:p.Lys260ThrfsTer5
XM_017028639.2:c.779_780del	XP_016884128.1:p.Lys260ThrfsTer5
XM_017028640.1:c.413_414del	XP_016884129.1:p.Lys138ThrfsTer5
XM_024452166.1:c.1146+567_1146+568del	XP_024307934.1:n.1146+567_1146+568del
XR_001755176.2:n.1486_1487del
XR_002958670.1:n.1271_1272del
XR_937825.3:n.1279+567_1279+568del
NM_000026.4:c.1244_1245del MANE Select	NP_000017.1:p.Lys415ThrfsTer5
NM_001363840.2:c.1244_1245del	NP_001350769.1:p.Lys415ThrfsTer5
NM_001123378.3:c.1191+567_1191+568del	NP_001116850.1:n.1191+567_1191+568del
NM_001317923.2:c.1052_1053del	NP_001304852.1:p.Lys351ThrfsTer5
NM_001363840.3:c.1244_1245del	NP_001350769.1:p.Lys415ThrfsTer5
NR_134256.2:n.1334_1335del