Canonical Allele Identifier: CA2405724559

Gene: ADSL

Linked Data

• dbSNP Id: rs2044938117
• gnomAD v4: 22-40364848-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364850_40364851del , CM000684.2:g.40364850_40364851del	GRCh38
NC_000022.10:g.40760854_40760855del , CM000684.1:g.40760854_40760855del	GRCh37
NC_000022.9:g.39090800_39090801del	NCBI36
NG_007993.1:g.23351_23352del
NG_007993.2:g.23351_23352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*586-30_*586-29del	ENSP00000485462.2:n.*586-30_*586-29del
ENST00000623287.4:c.*617-30_*617-29del	ENSP00000485437.1:n.*617-30_*617-29del
ENST00000623632.4:c.883-30_883-29del	ENSP00000485288.2:n.883-30_883-29del
ENST00000625194.4:c.1234-30_1234-29del	ENSP00000485289.2:n.1234-30_1234-29del
ENST00000636433.1:n.1214-30_1214-29del
ENST00000636714.1:c.1192-30_1192-29del	ENSP00000490946.1:n.1192-30_1192-29del
ENST00000637666.2:c.1191+485_1191+486del	ENSP00000489696.2:n.1191+485_1191+486del
ENST00000637669.1:c.1192-30_1192-29del	ENSP00000489728.1:n.1192-30_1192-29del
ENST00000639722.1:c.*888-30_*888-29del	ENSP00000492828.1:n.*888-30_*888-29del
ENST00000674592.1:n.2706-30_2706-29del
ENST00000675622.1:n.4259-30_4259-29del
ENST00000679609.1:c.*802-30_*802-29del	ENSP00000506592.1:n.*802-30_*802-29del
ENST00000679656.1:n.1877-30_1877-29del
ENST00000679723.1:c.1147-30_1147-29del	ENSP00000505155.1:n.1147-30_1147-29del
ENST00000679845.1:n.1500-30_1500-29del
ENST00000679904.1:n.1588-30_1588-29del
ENST00000680378.1:c.1279-30_1279-29del	ENSP00000505556.1:n.1279-30_1279-29del
ENST00000680444.1:c.*555-30_*555-29del	ENSP00000505298.1:n.*555-30_*555-29del
ENST00000680978.1:c.1192-30_1192-29del	ENSP00000505244.1:n.1192-30_1192-29del
ENST00000681003.1:n.655-30_655-29del
ENST00000681159.1:n.2596-30_2596-29del
ENST00000216194.11:c.1234-30_1234-29del	ENSP00000216194.8:n.1234-30_1234-29del
ENST00000342312.9:c.1191+485_1191+486del	ENSP00000341429.6:n.1191+485_1191+486del
ENST00000623063.3:c.1192-30_1192-29del MANE Select	ENSP00000485525.1:n.1192-30_1192-29del
ENST00000623387.1:n.293_294del
ENST00000625194.3:c.821-30_821-29del
NM_000026.2:c.1192-30_1192-29del	NP_000017.1:n.1192-30_1192-29del
NM_001123378.1:c.1191+485_1191+486del	NP_001116850.1:n.1191+485_1191+486del
XM_011529976.1:c.1192-30_1192-29del	XP_011528278.1:n.1192-30_1192-29del
XM_011529977.1:c.1192-30_1192-29del	XP_011528279.1:n.1192-30_1192-29del
XM_011529978.1:c.1191+485_1191+486del	XP_011528280.1:n.1191+485_1191+486del
XM_011529979.1:c.1192-30_1192-29del	XP_011528281.1:n.1192-30_1192-29del
XM_011529980.1:c.1191+485_1191+486del	XP_011528282.1:n.1191+485_1191+486del
XM_011529981.1:c.727-30_727-29del	XP_011528283.1:n.727-30_727-29del
XM_011529982.1:c.361-30_361-29del	XP_011528284.1:n.361-30_361-29del
XR_937824.1:n.1282-30_1282-29del
XR_937825.1:n.1281+485_1281+486del
NM_000026.3:c.1192-30_1192-29del	NP_000017.1:n.1192-30_1192-29del
NM_001123378.2:c.1191+485_1191+486del	NP_001116850.1:n.1191+485_1191+486del
NM_001317923.1:c.1000-30_1000-29del	NP_001304852.1:n.1000-30_1000-29del
NM_001363840.1:c.1192-30_1192-29del	NP_001350769.1:n.1192-30_1192-29del
NR_134256.1:n.1282-30_1282-29del
XM_011529977.3:c.1192-30_1192-29del	XP_011528279.1:n.1192-30_1192-29del
XM_011529980.3:c.1191+485_1191+486del	XP_011528282.1:n.1191+485_1191+486del
XM_017028636.1:c.1147-30_1147-29del	XP_016884125.1:n.1147-30_1147-29del
XM_017028637.1:c.1147-30_1147-29del	XP_016884126.1:n.1147-30_1147-29del
XM_017028638.1:c.727-30_727-29del	XP_016884127.1:n.727-30_727-29del
XM_017028639.2:c.727-30_727-29del	XP_016884128.1:n.727-30_727-29del
XM_017028640.1:c.361-30_361-29del	XP_016884129.1:n.361-30_361-29del
XM_024452166.1:c.1146+485_1146+486del	XP_024307934.1:n.1146+485_1146+486del
XR_001755176.2:n.1434-30_1434-29del
XR_002958670.1:n.1219-30_1219-29del
XR_937825.3:n.1279+485_1279+486del
NM_000026.4:c.1192-30_1192-29del MANE Select	NP_000017.1:n.1192-30_1192-29del
NM_001363840.2:c.1192-30_1192-29del	NP_001350769.1:n.1192-30_1192-29del
NM_001123378.3:c.1191+485_1191+486del	NP_001116850.1:n.1191+485_1191+486del
NM_001317923.2:c.1000-30_1000-29del	NP_001304852.1:n.1000-30_1000-29del
NM_001363840.3:c.1192-30_1192-29del	NP_001350769.1:n.1192-30_1192-29del
NR_134256.2:n.1282-30_1282-29del