Canonical Allele Identifier: CA2818993374

Gene: ADSL

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364530_40364531insCTCTGT , CM000684.2:g.40364530_40364531insCTCTGT	GRCh38
NC_000022.10:g.40760534_40760535insCTCTGT , CM000684.1:g.40760534_40760535insCTCTGT	GRCh37
NC_000022.9:g.39090480_39090481insCTCTGT	NCBI36
NG_007993.1:g.23031_23032insCTCTGT
NG_007993.2:g.23031_23032insCTCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*585+165_*585+166insCTCTGT	ENSP00000485462.2:n.*585+165_*585+166insCTCTGT
ENST00000623287.4:c.*616+165_*616+166insCTCTGT	ENSP00000485437.1:n.*616+165_*616+166insCTCTGT
ENST00000623632.4:c.882+165_882+166insCTCTGT	ENSP00000485288.2:n.882+165_882+166insCTCTGT
ENST00000625194.4:c.1233+165_1233+166insCTCTGT	ENSP00000485289.2:n.1233+165_1233+166insCTCTGT
ENST00000636433.1:n.1213+165_1213+166insCTCTGT
ENST00000636714.1:c.1191+165_1191+166insCTCTGT	ENSP00000490946.1:n.1191+165_1191+166insCTCTGT
ENST00000637666.2:c.1191+165_1191+166insCTCTGT	ENSP00000489696.2:n.1191+165_1191+166insCTCTGT
ENST00000637669.1:c.1191+165_1191+166insCTCTGT	ENSP00000489728.1:n.1191+165_1191+166insCTCTGT
ENST00000639722.1:c.*887+165_*887+166insCTCTGT	ENSP00000492828.1:n.*887+165_*887+166insCTCTGT
ENST00000674592.1:n.2705+165_2705+166insCTCTGT
ENST00000675622.1:n.4258+165_4258+166insCTCTGT
ENST00000679609.1:c.*801+165_*801+166insCTCTGT	ENSP00000506592.1:n.*801+165_*801+166insCTCTGT
ENST00000679656.1:n.1876+165_1876+166insCTCTGT
ENST00000679723.1:c.1146+165_1146+166insCTCTGT	ENSP00000505155.1:n.1146+165_1146+166insCTCTGT
ENST00000679845.1:n.1499+165_1499+166insCTCTGT
ENST00000679904.1:n.1587+165_1587+166insCTCTGT
ENST00000680378.1:c.1278+165_1278+166insCTCTGT	ENSP00000505556.1:n.1278+165_1278+166insCTCTGT
ENST00000680444.1:c.*554+165_*554+166insCTCTGT	ENSP00000505298.1:n.*554+165_*554+166insCTCTGT
ENST00000680978.1:c.1191+165_1191+166insCTCTGT	ENSP00000505244.1:n.1191+165_1191+166insCTCTGT
ENST00000681003.1:n.654+165_654+166insCTCTGT
ENST00000681159.1:n.2595+165_2595+166insCTCTGT
ENST00000216194.11:c.1233+165_1233+166insCTCTGT	ENSP00000216194.8:n.1233+165_1233+166insCTCTGT
ENST00000342312.9:c.1191+165_1191+166insCTCTGT	ENSP00000341429.6:n.1191+165_1191+166insCTCTGT
ENST00000623063.3:c.1191+165_1191+166insCTCTGT MANE Select	ENSP00000485525.1:n.1191+165_1191+166insCTCTGT
ENST00000625194.3:c.820+165_820+166insCTCTGT
NM_000026.2:c.1191+165_1191+166insCTCTGT	NP_000017.1:n.1191+165_1191+166insCTCTGT
NM_001123378.1:c.1191+165_1191+166insCTCTGT	NP_001116850.1:n.1191+165_1191+166insCTCTGT
XM_011529976.1:c.1191+165_1191+166insCTCTGT	XP_011528278.1:n.1191+165_1191+166insCTCTGT
XM_011529977.1:c.1191+165_1191+166insCTCTGT	XP_011528279.1:n.1191+165_1191+166insCTCTGT
XM_011529978.1:c.1191+165_1191+166insCTCTGT	XP_011528280.1:n.1191+165_1191+166insCTCTGT
XM_011529979.1:c.1191+165_1191+166insCTCTGT	XP_011528281.1:n.1191+165_1191+166insCTCTGT
XM_011529980.1:c.1191+165_1191+166insCTCTGT	XP_011528282.1:n.1191+165_1191+166insCTCTGT
XM_011529981.1:c.726+165_726+166insCTCTGT	XP_011528283.1:n.726+165_726+166insCTCTGT
XM_011529982.1:c.360+165_360+166insCTCTGT	XP_011528284.1:n.360+165_360+166insCTCTGT
XR_937824.1:n.1281+165_1281+166insCTCTGT
XR_937825.1:n.1281+165_1281+166insCTCTGT
NM_000026.3:c.1191+165_1191+166insCTCTGT	NP_000017.1:n.1191+165_1191+166insCTCTGT
NM_001123378.2:c.1191+165_1191+166insCTCTGT	NP_001116850.1:n.1191+165_1191+166insCTCTGT
NM_001317923.1:c.999+165_999+166insCTCTGT	NP_001304852.1:n.999+165_999+166insCTCTGT
NM_001363840.1:c.1191+165_1191+166insCTCTGT	NP_001350769.1:n.1191+165_1191+166insCTCTGT
NR_134256.1:n.1281+165_1281+166insCTCTGT
XM_011529977.3:c.1191+165_1191+166insCTCTGT	XP_011528279.1:n.1191+165_1191+166insCTCTGT
XM_011529980.3:c.1191+165_1191+166insCTCTGT	XP_011528282.1:n.1191+165_1191+166insCTCTGT
XM_017028636.1:c.1146+165_1146+166insCTCTGT	XP_016884125.1:n.1146+165_1146+166insCTCTGT
XM_017028637.1:c.1146+165_1146+166insCTCTGT	XP_016884126.1:n.1146+165_1146+166insCTCTGT
XM_017028638.1:c.726+165_726+166insCTCTGT	XP_016884127.1:n.726+165_726+166insCTCTGT
XM_017028639.2:c.726+165_726+166insCTCTGT	XP_016884128.1:n.726+165_726+166insCTCTGT
XM_017028640.1:c.360+165_360+166insCTCTGT	XP_016884129.1:n.360+165_360+166insCTCTGT
XM_024452166.1:c.1146+165_1146+166insCTCTGT	XP_024307934.1:n.1146+165_1146+166insCTCTGT
XR_001755176.2:n.1433+165_1433+166insCTCTGT
XR_002958670.1:n.1218+165_1218+166insCTCTGT
XR_937825.3:n.1279+165_1279+166insCTCTGT
NM_000026.4:c.1191+165_1191+166insCTCTGT MANE Select	NP_000017.1:n.1191+165_1191+166insCTCTGT
NM_001363840.2:c.1191+165_1191+166insCTCTGT	NP_001350769.1:n.1191+165_1191+166insCTCTGT
NM_001123378.3:c.1191+165_1191+166insCTCTGT	NP_001116850.1:n.1191+165_1191+166insCTCTGT
NM_001317923.2:c.999+165_999+166insCTCTGT	NP_001304852.1:n.999+165_999+166insCTCTGT
NM_001363840.3:c.1191+165_1191+166insCTCTGT	NP_001350769.1:n.1191+165_1191+166insCTCTGT
NR_134256.2:n.1281+165_1281+166insCTCTGT