Canonical Allele Identifier: CA753181049

Gene: ADSL

Linked Data

• dbSNP Id: rs1317268930
• gnomAD v3: 22-40360334-TAC-T
• gnomAD v4: 22-40360334-TAC-T
• MyVariant Identifiers: chr22:g.40756339_40756340del (hg19) ; chr22:g.40360335_40360336del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40360336_40360337del , CM000684.2:g.40360336_40360337del	GRCh38
NC_000022.10:g.40756340_40756341del , CM000684.1:g.40756340_40756341del	GRCh37
NC_000022.9:g.39086286_39086287del	NCBI36
NG_007993.1:g.18837_18838del
NG_007993.2:g.18837_18838del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480775.3:c.702-66_702-65del	ENSP00000485462.2:n.702-66_702-65del
ENST00000623287.4:c.*127-66_*127-65del	ENSP00000485437.1:n.*127-66_*127-65del
ENST00000623632.4:c.702-66_702-65del	ENSP00000485288.2:n.702-66_702-65del
ENST00000625194.4:c.702-66_702-65del	ENSP00000485289.2:n.702-66_702-65del
ENST00000636265.1:c.702-66_702-65del	ENSP00000490909.1:n.702-66_702-65del
ENST00000636433.1:n.724-66_724-65del
ENST00000636714.1:c.702-66_702-65del	ENSP00000490946.1:n.702-66_702-65del
ENST00000637666.2:c.702-66_702-65del	ENSP00000489696.2:n.702-66_702-65del
ENST00000637669.1:c.702-66_702-65del	ENSP00000489728.1:n.702-66_702-65del
ENST00000639722.1:c.*398-66_*398-65del	ENSP00000492828.1:n.*398-66_*398-65del
ENST00000674592.1:n.726-66_726-65del
ENST00000675622.1:n.3769-66_3769-65del
ENST00000679609.1:c.*127-66_*127-65del	ENSP00000506592.1:n.*127-66_*127-65del
ENST00000679656.1:n.607-66_607-65del
ENST00000679723.1:c.657-66_657-65del	ENSP00000505155.1:n.657-66_657-65del
ENST00000679845.1:n.825-66_825-65del
ENST00000679904.1:n.913-66_913-65del
ENST00000680378.1:c.789-66_789-65del	ENSP00000505556.1:n.789-66_789-65del
ENST00000680444.1:c.702-66_702-65del	ENSP00000505298.1:n.702-66_702-65del
ENST00000680978.1:c.702-66_702-65del	ENSP00000505244.1:n.702-66_702-65del
ENST00000681003.1:n.68_69del
ENST00000681159.1:n.761-66_761-65del
ENST00000216194.11:c.744-66_744-65del	ENSP00000216194.8:n.744-66_744-65del
ENST00000342312.9:c.702-66_702-65del	ENSP00000341429.6:n.702-66_702-65del
ENST00000480775.2:c.116-66_116-65del
ENST00000623063.3:c.702-66_702-65del MANE Select	ENSP00000485525.1:n.702-66_702-65del
ENST00000623287.3:c.*127-66_*127-65del	ENSP00000485437.1:n.*127-66_*127-65del
ENST00000623632.3:c.657-66_657-65del	ENSP00000485288.1:n.657-66_657-65del
ENST00000623978.3:c.162-66_162-65del	ENSP00000485477.1:n.162-66_162-65del
ENST00000624474.1:c.*127-66_*127-65del	ENSP00000485286.1:n.*127-66_*127-65del
ENST00000625194.3:c.289-66_289-65del
NM_000026.2:c.702-66_702-65del	NP_000017.1:n.702-66_702-65del
NM_001123378.1:c.702-66_702-65del	NP_001116850.1:n.702-66_702-65del
XM_011529976.1:c.702-66_702-65del	XP_011528278.1:n.702-66_702-65del
XM_011529977.1:c.702-66_702-65del	XP_011528279.1:n.702-66_702-65del
XM_011529978.1:c.702-66_702-65del	XP_011528280.1:n.702-66_702-65del
XM_011529979.1:c.702-66_702-65del	XP_011528281.1:n.702-66_702-65del
XM_011529980.1:c.702-66_702-65del	XP_011528282.1:n.702-66_702-65del
XM_011529981.1:c.237-66_237-65del	XP_011528283.1:n.237-66_237-65del
XM_011529982.1:c.-315-66_-315-65del	XP_011528284.1:n.-315-66_-315-65del
XR_937824.1:n.761-66_761-65del
XR_937825.1:n.761-66_761-65del
XR_937826.1:n.761-66_761-65del
NM_000026.3:c.702-66_702-65del	NP_000017.1:n.702-66_702-65del
NM_001123378.2:c.702-66_702-65del	NP_001116850.1:n.702-66_702-65del
NM_001317923.1:c.510-66_510-65del	NP_001304852.1:n.510-66_510-65del
NM_001363840.1:c.702-66_702-65del	NP_001350769.1:n.702-66_702-65del
NR_134256.1:n.761-66_761-65del
XM_011529977.3:c.702-66_702-65del	XP_011528279.1:n.702-66_702-65del
XM_011529980.3:c.702-66_702-65del	XP_011528282.1:n.702-66_702-65del
XM_017028636.1:c.657-66_657-65del	XP_016884125.1:n.657-66_657-65del
XM_017028637.1:c.657-66_657-65del	XP_016884126.1:n.657-66_657-65del
XM_017028638.1:c.237-66_237-65del	XP_016884127.1:n.237-66_237-65del
XM_017028639.2:c.237-66_237-65del	XP_016884128.1:n.237-66_237-65del
XM_017028640.1:c.-315-66_-315-65del	XP_016884129.1:n.-315-66_-315-65del
XM_024452166.1:c.657-66_657-65del	XP_024307934.1:n.657-66_657-65del
XR_001755176.2:n.759-66_759-65del
XR_002958670.1:n.698-66_698-65del
XR_002958671.1:n.759-66_759-65del
XR_937825.3:n.759-66_759-65del
NM_000026.4:c.702-66_702-65del MANE Select	NP_000017.1:n.702-66_702-65del
NM_001363840.2:c.702-66_702-65del	NP_001350769.1:n.702-66_702-65del
NM_001123378.3:c.702-66_702-65del	NP_001116850.1:n.702-66_702-65del
NM_001317923.2:c.510-66_510-65del	NP_001304852.1:n.510-66_510-65del
NM_001363840.3:c.702-66_702-65del	NP_001350769.1:n.702-66_702-65del
NR_134256.2:n.761-66_761-65del