Canonical Allele Identifier: CA2656867158

Gene: ADSL

Linked Data

• gnomAD v4: 22-40364580-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364580C>A , CM000684.2:g.40364580C>A	GRCh38
NC_000022.10:g.40760584C>A , CM000684.1:g.40760584C>A	GRCh37
NC_000022.9:g.39090530C>A	NCBI36
NG_007993.1:g.23081C>A
NG_007993.2:g.23081C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*585+215C>A	ENSP00000485462.2:n.*585+215C>A
ENST00000623287.4:c.*616+215C>A	ENSP00000485437.1:n.*616+215C>A
ENST00000623632.4:c.882+215C>A	ENSP00000485288.2:n.882+215C>A
ENST00000625194.4:c.1233+215C>A	ENSP00000485289.2:n.1233+215C>A
ENST00000636433.1:n.1213+215C>A
ENST00000636714.1:c.1191+215C>A	ENSP00000490946.1:n.1191+215C>A
ENST00000637666.2:c.1191+215C>A	ENSP00000489696.2:n.1191+215C>A
ENST00000637669.1:c.1191+215C>A	ENSP00000489728.1:n.1191+215C>A
ENST00000639722.1:c.*887+215C>A	ENSP00000492828.1:n.*887+215C>A
ENST00000674592.1:n.2705+215C>A
ENST00000675622.1:n.4258+215C>A
ENST00000679609.1:c.*801+215C>A	ENSP00000506592.1:n.*801+215C>A
ENST00000679656.1:n.1876+215C>A
ENST00000679723.1:c.1146+215C>A	ENSP00000505155.1:n.1146+215C>A
ENST00000679845.1:n.1499+215C>A
ENST00000679904.1:n.1587+215C>A
ENST00000680378.1:c.1278+215C>A	ENSP00000505556.1:n.1278+215C>A
ENST00000680444.1:c.*554+215C>A	ENSP00000505298.1:n.*554+215C>A
ENST00000680978.1:c.1191+215C>A	ENSP00000505244.1:n.1191+215C>A
ENST00000681003.1:n.654+215C>A
ENST00000681159.1:n.2595+215C>A
ENST00000216194.11:c.1233+215C>A	ENSP00000216194.8:n.1233+215C>A
ENST00000342312.9:c.1191+215C>A	ENSP00000341429.6:n.1191+215C>A
ENST00000623063.3:c.1191+215C>A MANE Select	ENSP00000485525.1:n.1191+215C>A
ENST00000623387.1:n.23C>A
ENST00000625194.3:c.820+215C>A
NM_000026.2:c.1191+215C>A	NP_000017.1:n.1191+215C>A
NM_001123378.1:c.1191+215C>A	NP_001116850.1:n.1191+215C>A
XM_011529976.1:c.1191+215C>A	XP_011528278.1:n.1191+215C>A
XM_011529977.1:c.1191+215C>A	XP_011528279.1:n.1191+215C>A
XM_011529978.1:c.1191+215C>A	XP_011528280.1:n.1191+215C>A
XM_011529979.1:c.1191+215C>A	XP_011528281.1:n.1191+215C>A
XM_011529980.1:c.1191+215C>A	XP_011528282.1:n.1191+215C>A
XM_011529981.1:c.726+215C>A	XP_011528283.1:n.726+215C>A
XM_011529982.1:c.360+215C>A	XP_011528284.1:n.360+215C>A
XR_937824.1:n.1281+215C>A
XR_937825.1:n.1281+215C>A
NM_000026.3:c.1191+215C>A	NP_000017.1:n.1191+215C>A
NM_001123378.2:c.1191+215C>A	NP_001116850.1:n.1191+215C>A
NM_001317923.1:c.999+215C>A	NP_001304852.1:n.999+215C>A
NM_001363840.1:c.1191+215C>A	NP_001350769.1:n.1191+215C>A
NR_134256.1:n.1281+215C>A
XM_011529977.3:c.1191+215C>A	XP_011528279.1:n.1191+215C>A
XM_011529980.3:c.1191+215C>A	XP_011528282.1:n.1191+215C>A
XM_017028636.1:c.1146+215C>A	XP_016884125.1:n.1146+215C>A
XM_017028637.1:c.1146+215C>A	XP_016884126.1:n.1146+215C>A
XM_017028638.1:c.726+215C>A	XP_016884127.1:n.726+215C>A
XM_017028639.2:c.726+215C>A	XP_016884128.1:n.726+215C>A
XM_017028640.1:c.360+215C>A	XP_016884129.1:n.360+215C>A
XM_024452166.1:c.1146+215C>A	XP_024307934.1:n.1146+215C>A
XR_001755176.2:n.1433+215C>A
XR_002958670.1:n.1218+215C>A
XR_937825.3:n.1279+215C>A
NM_000026.4:c.1191+215C>A MANE Select	NP_000017.1:n.1191+215C>A
NM_001363840.2:c.1191+215C>A	NP_001350769.1:n.1191+215C>A
NM_001123378.3:c.1191+215C>A	NP_001116850.1:n.1191+215C>A
NM_001317923.2:c.999+215C>A	NP_001304852.1:n.999+215C>A
NM_001363840.3:c.1191+215C>A	NP_001350769.1:n.1191+215C>A
NR_134256.2:n.1281+215C>A