Canonical Allele Identifier: CA1025768800

Gene: ADSL

Linked Data

• gnomAD v3: 22-40350154-G-GTTTTTTT
• gnomAD v4: 22-40350154-G-GTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40350154_40350155insTTTTTTT , CM000684.2:g.40350154_40350155insTTTTTTT	GRCh38
NC_000022.10:g.40746158_40746159insTTTTTTT , CM000684.1:g.40746158_40746159insTTTTTTT	GRCh37
NC_000022.9:g.39076104_39076105insTTTTTTT	NCBI36
NG_007993.1:g.8655_8656insTTTTTTT
NG_007993.2:g.8655_8656insTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.357+119_357+120insTTTTTTT	ENSP00000485462.2:n.357+119_357+120insTTTTTTT
ENST00000623287.4:c.357+119_357+120insTTTTTTT	ENSP00000485437.1:n.357+119_357+120insTTTTTTT
ENST00000623632.4:c.357+119_357+120insTTTTTTT	ENSP00000485288.2:n.357+119_357+120insTTTTTTT
ENST00000625194.4:c.357+119_357+120insTTTTTTT	ENSP00000485289.2:n.357+119_357+120insTTTTTTT
ENST00000636124.1:n.49+2802_49+2803insTTTTTTT
ENST00000636265.1:c.357+119_357+120insTTTTTTT	ENSP00000490909.1:n.357+119_357+120insTTTTTTT
ENST00000636714.1:c.357+119_357+120insTTTTTTT	ENSP00000490946.1:n.357+119_357+120insTTTTTTT
ENST00000637666.2:c.357+119_357+120insTTTTTTT	ENSP00000489696.2:n.357+119_357+120insTTTTTTT
ENST00000637669.1:c.357+119_357+120insTTTTTTT	ENSP00000489728.1:n.357+119_357+120insTTTTTTT
ENST00000638161.1:n.494+119_494+120insTTTTTTT
ENST00000639722.1:c.*178+119_*178+120insTTTTTTT	ENSP00000492828.1:n.*178+119_*178+120insTTTTTTT
ENST00000675622.1:n.506_507insTTTTTTT
ENST00000679609.1:c.357+119_357+120insTTTTTTT	ENSP00000506592.1:n.357+119_357+120insTTTTTTT
ENST00000679656.1:n.387+119_387+120insTTTTTTT
ENST00000679723.1:c.357+119_357+120insTTTTTTT	ENSP00000505155.1:n.357+119_357+120insTTTTTTT
ENST00000680378.1:c.357+119_357+120insTTTTTTT	ENSP00000505556.1:n.357+119_357+120insTTTTTTT
ENST00000680444.1:c.357+119_357+120insTTTTTTT	ENSP00000505298.1:n.357+119_357+120insTTTTTTT
ENST00000680978.1:c.357+119_357+120insTTTTTTT	ENSP00000505244.1:n.357+119_357+120insTTTTTTT
ENST00000681159.1:n.416+119_416+120insTTTTTTT
ENST00000216194.11:c.357+119_357+120insTTTTTTT	ENSP00000216194.8:n.357+119_357+120insTTTTTTT
ENST00000342312.9:c.357+119_357+120insTTTTTTT	ENSP00000341429.6:n.357+119_357+120insTTTTTTT
ENST00000466863.1:n.517_518insTTTTTTT
ENST00000477111.2:n.387+119_387+120insTTTTTTT
ENST00000623063.3:c.357+119_357+120insTTTTTTT MANE Select	ENSP00000485525.1:n.357+119_357+120insTTTTTTT
ENST00000623287.3:c.357+119_357+120insTTTTTTT	ENSP00000485437.1:n.357+119_357+120insTTTTTTT
ENST00000623632.3:c.357+119_357+120insTTTTTTT	ENSP00000485288.1:n.357+119_357+120insTTTTTTT
ENST00000623978.3:c.-183-2919_-183-2918insTTTTTTT	ENSP00000485477.1:n.-183-2919_-183-2918insTTTTTTT
ENST00000624474.1:c.357+119_357+120insTTTTTTT	ENSP00000485286.1:n.357+119_357+120insTTTTTTT
ENST00000624503.1:c.*92_*93insTTTTTTT	ENSP00000485073.1:n.*92_*93insTTTTTTT
NM_000026.2:c.357+119_357+120insTTTTTTT	NP_000017.1:n.357+119_357+120insTTTTTTT
NM_001123378.1:c.357+119_357+120insTTTTTTT	NP_001116850.1:n.357+119_357+120insTTTTTTT
XM_011529976.1:c.357+119_357+120insTTTTTTT	XP_011528278.1:n.357+119_357+120insTTTTTTT
XM_011529977.1:c.357+119_357+120insTTTTTTT	XP_011528279.1:n.357+119_357+120insTTTTTTT
XM_011529978.1:c.357+119_357+120insTTTTTTT	XP_011528280.1:n.357+119_357+120insTTTTTTT
XM_011529979.1:c.357+119_357+120insTTTTTTT	XP_011528281.1:n.357+119_357+120insTTTTTTT
XM_011529980.1:c.357+119_357+120insTTTTTTT	XP_011528282.1:n.357+119_357+120insTTTTTTT
XM_011529981.1:c.17+119_17+120insTTTTTTT	XP_011528283.1:n.17+119_17+120insTTTTTTT
XR_937824.1:n.416+119_416+120insTTTTTTT
XR_937825.1:n.416+119_416+120insTTTTTTT
XR_937826.1:n.416+119_416+120insTTTTTTT
NM_000026.3:c.357+119_357+120insTTTTTTT	NP_000017.1:n.357+119_357+120insTTTTTTT
NM_001123378.2:c.357+119_357+120insTTTTTTT	NP_001116850.1:n.357+119_357+120insTTTTTTT
NM_001317923.1:c.165+119_165+120insTTTTTTT	NP_001304852.1:n.165+119_165+120insTTTTTTT
NM_001363840.1:c.357+119_357+120insTTTTTTT	NP_001350769.1:n.357+119_357+120insTTTTTTT
NR_134256.1:n.416+119_416+120insTTTTTTT
XM_011529977.3:c.357+119_357+120insTTTTTTT	XP_011528279.1:n.357+119_357+120insTTTTTTT
XM_011529980.3:c.357+119_357+120insTTTTTTT	XP_011528282.1:n.357+119_357+120insTTTTTTT
XM_017028636.1:c.357+119_357+120insTTTTTTT	XP_016884125.1:n.357+119_357+120insTTTTTTT
XM_017028637.1:c.357+119_357+120insTTTTTTT	XP_016884126.1:n.357+119_357+120insTTTTTTT
XM_017028638.1:c.17+119_17+120insTTTTTTT	XP_016884127.1:n.17+119_17+120insTTTTTTT
XM_017028639.2:c.17+119_17+120insTTTTTTT	XP_016884128.1:n.17+119_17+120insTTTTTTT
XM_024452166.1:c.357+119_357+120insTTTTTTT	XP_024307934.1:n.357+119_357+120insTTTTTTT
XR_001755176.2:n.414+119_414+120insTTTTTTT
XR_002958670.1:n.398+119_398+120insTTTTTTT
XR_002958671.1:n.414+119_414+120insTTTTTTT
XR_937825.3:n.414+119_414+120insTTTTTTT
NM_000026.4:c.357+119_357+120insTTTTTTT MANE Select	NP_000017.1:n.357+119_357+120insTTTTTTT
NM_001363840.2:c.357+119_357+120insTTTTTTT	NP_001350769.1:n.357+119_357+120insTTTTTTT
NM_001123378.3:c.357+119_357+120insTTTTTTT	NP_001116850.1:n.357+119_357+120insTTTTTTT
NM_001317923.2:c.165+119_165+120insTTTTTTT	NP_001304852.1:n.165+119_165+120insTTTTTTT
NM_001363840.3:c.357+119_357+120insTTTTTTT	NP_001350769.1:n.357+119_357+120insTTTTTTT
NR_134256.2:n.416+119_416+120insTTTTTTT