Canonical Allele Identifier: CA2656865991

Gene: ADSL

Linked Data

• gnomAD v4: 22-40350203-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40350204_40350205del , CM000684.2:g.40350204_40350205del	GRCh38
NC_000022.10:g.40746208_40746209del , CM000684.1:g.40746208_40746209del	GRCh37
NC_000022.9:g.39076154_39076155del	NCBI36
NG_007993.1:g.8705_8706del
NG_007993.2:g.8705_8706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.357+169_357+170del	ENSP00000485462.2:n.357+169_357+170del
ENST00000623287.4:c.357+169_357+170del	ENSP00000485437.1:n.357+169_357+170del
ENST00000623632.4:c.357+169_357+170del	ENSP00000485288.2:n.357+169_357+170del
ENST00000625194.4:c.357+169_357+170del	ENSP00000485289.2:n.357+169_357+170del
ENST00000636124.1:n.49+2852_49+2853del
ENST00000636265.1:c.357+169_357+170del	ENSP00000490909.1:n.357+169_357+170del
ENST00000636714.1:c.357+169_357+170del	ENSP00000490946.1:n.357+169_357+170del
ENST00000637666.2:c.357+169_357+170del	ENSP00000489696.2:n.357+169_357+170del
ENST00000637669.1:c.357+169_357+170del	ENSP00000489728.1:n.357+169_357+170del
ENST00000638161.1:n.494+169_494+170del
ENST00000639722.1:c.*178+169_*178+170del	ENSP00000492828.1:n.*178+169_*178+170del
ENST00000675622.1:n.556_557del
ENST00000679609.1:c.357+169_357+170del	ENSP00000506592.1:n.357+169_357+170del
ENST00000679656.1:n.387+169_387+170del
ENST00000679723.1:c.357+169_357+170del	ENSP00000505155.1:n.357+169_357+170del
ENST00000680378.1:c.357+169_357+170del	ENSP00000505556.1:n.357+169_357+170del
ENST00000680444.1:c.357+169_357+170del	ENSP00000505298.1:n.357+169_357+170del
ENST00000680978.1:c.357+169_357+170del	ENSP00000505244.1:n.357+169_357+170del
ENST00000681159.1:n.416+169_416+170del
ENST00000216194.11:c.357+169_357+170del	ENSP00000216194.8:n.357+169_357+170del
ENST00000342312.9:c.357+169_357+170del	ENSP00000341429.6:n.357+169_357+170del
ENST00000466863.1:n.567_568del
ENST00000477111.2:n.387+169_387+170del
ENST00000623063.3:c.357+169_357+170del MANE Select	ENSP00000485525.1:n.357+169_357+170del
ENST00000623287.3:c.357+169_357+170del	ENSP00000485437.1:n.357+169_357+170del
ENST00000623632.3:c.357+169_357+170del	ENSP00000485288.1:n.357+169_357+170del
ENST00000623978.3:c.-183-2869_-183-2868del	ENSP00000485477.1:n.-183-2869_-183-2868del
ENST00000624474.1:c.357+169_357+170del	ENSP00000485286.1:n.357+169_357+170del
ENST00000624503.1:c.*142_*143del	ENSP00000485073.1:n.*142_*143del
NM_000026.2:c.357+169_357+170del	NP_000017.1:n.357+169_357+170del
NM_001123378.1:c.357+169_357+170del	NP_001116850.1:n.357+169_357+170del
XM_011529976.1:c.357+169_357+170del	XP_011528278.1:n.357+169_357+170del
XM_011529977.1:c.357+169_357+170del	XP_011528279.1:n.357+169_357+170del
XM_011529978.1:c.357+169_357+170del	XP_011528280.1:n.357+169_357+170del
XM_011529979.1:c.357+169_357+170del	XP_011528281.1:n.357+169_357+170del
XM_011529980.1:c.357+169_357+170del	XP_011528282.1:n.357+169_357+170del
XM_011529981.1:c.17+169_17+170del	XP_011528283.1:n.17+169_17+170del
XR_937824.1:n.416+169_416+170del
XR_937825.1:n.416+169_416+170del
XR_937826.1:n.416+169_416+170del
NM_000026.3:c.357+169_357+170del	NP_000017.1:n.357+169_357+170del
NM_001123378.2:c.357+169_357+170del	NP_001116850.1:n.357+169_357+170del
NM_001317923.1:c.165+169_165+170del	NP_001304852.1:n.165+169_165+170del
NM_001363840.1:c.357+169_357+170del	NP_001350769.1:n.357+169_357+170del
NR_134256.1:n.416+169_416+170del
XM_011529977.3:c.357+169_357+170del	XP_011528279.1:n.357+169_357+170del
XM_011529980.3:c.357+169_357+170del	XP_011528282.1:n.357+169_357+170del
XM_017028636.1:c.357+169_357+170del	XP_016884125.1:n.357+169_357+170del
XM_017028637.1:c.357+169_357+170del	XP_016884126.1:n.357+169_357+170del
XM_017028638.1:c.17+169_17+170del	XP_016884127.1:n.17+169_17+170del
XM_017028639.2:c.17+169_17+170del	XP_016884128.1:n.17+169_17+170del
XM_024452166.1:c.357+169_357+170del	XP_024307934.1:n.357+169_357+170del
XR_001755176.2:n.414+169_414+170del
XR_002958670.1:n.398+169_398+170del
XR_002958671.1:n.414+169_414+170del
XR_937825.3:n.414+169_414+170del
NM_000026.4:c.357+169_357+170del MANE Select	NP_000017.1:n.357+169_357+170del
NM_001363840.2:c.357+169_357+170del	NP_001350769.1:n.357+169_357+170del
NM_001123378.3:c.357+169_357+170del	NP_001116850.1:n.357+169_357+170del
NM_001317923.2:c.165+169_165+170del	NP_001304852.1:n.165+169_165+170del
NM_001363840.3:c.357+169_357+170del	NP_001350769.1:n.357+169_357+170del
NR_134256.2:n.416+169_416+170del