Canonical Allele Identifier: CA2577726165

Gene: ADSL

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364800_40364804del , CM000684.2:g.40364800_40364804del	GRCh38
NC_000022.10:g.40760804_40760808del , CM000684.1:g.40760804_40760808del	GRCh37
NC_000022.9:g.39090750_39090754del	NCBI36
NG_007993.1:g.23301_23305del
NG_007993.2:g.23301_23305del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*586-80_*586-76del	ENSP00000485462.2:n.*586-80_*586-76del
ENST00000623287.4:c.*617-80_*617-76del	ENSP00000485437.1:n.*617-80_*617-76del
ENST00000623632.4:c.883-80_883-76del	ENSP00000485288.2:n.883-80_883-76del
ENST00000625194.4:c.1234-80_1234-76del	ENSP00000485289.2:n.1234-80_1234-76del
ENST00000636433.1:n.1214-80_1214-76del
ENST00000636714.1:c.1192-80_1192-76del	ENSP00000490946.1:n.1192-80_1192-76del
ENST00000637666.2:c.1191+435_1191+439del	ENSP00000489696.2:n.1191+435_1191+439del
ENST00000637669.1:c.1192-80_1192-76del	ENSP00000489728.1:n.1192-80_1192-76del
ENST00000639722.1:c.*888-80_*888-76del	ENSP00000492828.1:n.*888-80_*888-76del
ENST00000674592.1:n.2706-80_2706-76del
ENST00000675622.1:n.4259-80_4259-76del
ENST00000679609.1:c.*802-80_*802-76del	ENSP00000506592.1:n.*802-80_*802-76del
ENST00000679656.1:n.1877-80_1877-76del
ENST00000679723.1:c.1147-80_1147-76del	ENSP00000505155.1:n.1147-80_1147-76del
ENST00000679845.1:n.1500-80_1500-76del
ENST00000679904.1:n.1588-80_1588-76del
ENST00000680378.1:c.1279-80_1279-76del	ENSP00000505556.1:n.1279-80_1279-76del
ENST00000680444.1:c.*555-80_*555-76del	ENSP00000505298.1:n.*555-80_*555-76del
ENST00000680978.1:c.1192-80_1192-76del	ENSP00000505244.1:n.1192-80_1192-76del
ENST00000681003.1:n.655-80_655-76del
ENST00000681159.1:n.2596-80_2596-76del
ENST00000216194.11:c.1234-80_1234-76del	ENSP00000216194.8:n.1234-80_1234-76del
ENST00000342312.9:c.1191+435_1191+439del	ENSP00000341429.6:n.1191+435_1191+439del
ENST00000623063.3:c.1192-80_1192-76del MANE Select	ENSP00000485525.1:n.1192-80_1192-76del
ENST00000623387.1:n.243_247del
ENST00000625194.3:c.821-80_821-76del
NM_000026.2:c.1192-80_1192-76del	NP_000017.1:n.1192-80_1192-76del
NM_001123378.1:c.1191+435_1191+439del	NP_001116850.1:n.1191+435_1191+439del
XM_011529976.1:c.1192-80_1192-76del	XP_011528278.1:n.1192-80_1192-76del
XM_011529977.1:c.1192-80_1192-76del	XP_011528279.1:n.1192-80_1192-76del
XM_011529978.1:c.1191+435_1191+439del	XP_011528280.1:n.1191+435_1191+439del
XM_011529979.1:c.1192-80_1192-76del	XP_011528281.1:n.1192-80_1192-76del
XM_011529980.1:c.1191+435_1191+439del	XP_011528282.1:n.1191+435_1191+439del
XM_011529981.1:c.727-80_727-76del	XP_011528283.1:n.727-80_727-76del
XM_011529982.1:c.361-80_361-76del	XP_011528284.1:n.361-80_361-76del
XR_937824.1:n.1282-80_1282-76del
XR_937825.1:n.1281+435_1281+439del
NM_000026.3:c.1192-80_1192-76del	NP_000017.1:n.1192-80_1192-76del
NM_001123378.2:c.1191+435_1191+439del	NP_001116850.1:n.1191+435_1191+439del
NM_001317923.1:c.1000-80_1000-76del	NP_001304852.1:n.1000-80_1000-76del
NM_001363840.1:c.1192-80_1192-76del	NP_001350769.1:n.1192-80_1192-76del
NR_134256.1:n.1282-80_1282-76del
XM_011529977.3:c.1192-80_1192-76del	XP_011528279.1:n.1192-80_1192-76del
XM_011529980.3:c.1191+435_1191+439del	XP_011528282.1:n.1191+435_1191+439del
XM_017028636.1:c.1147-80_1147-76del	XP_016884125.1:n.1147-80_1147-76del
XM_017028637.1:c.1147-80_1147-76del	XP_016884126.1:n.1147-80_1147-76del
XM_017028638.1:c.727-80_727-76del	XP_016884127.1:n.727-80_727-76del
XM_017028639.2:c.727-80_727-76del	XP_016884128.1:n.727-80_727-76del
XM_017028640.1:c.361-80_361-76del	XP_016884129.1:n.361-80_361-76del
XM_024452166.1:c.1146+435_1146+439del	XP_024307934.1:n.1146+435_1146+439del
XR_001755176.2:n.1434-80_1434-76del
XR_002958670.1:n.1219-80_1219-76del
XR_937825.3:n.1279+435_1279+439del
NM_000026.4:c.1192-80_1192-76del MANE Select	NP_000017.1:n.1192-80_1192-76del
NM_001363840.2:c.1192-80_1192-76del	NP_001350769.1:n.1192-80_1192-76del
NM_001123378.3:c.1191+435_1191+439del	NP_001116850.1:n.1191+435_1191+439del
NM_001317923.2:c.1000-80_1000-76del	NP_001304852.1:n.1000-80_1000-76del
NM_001363840.3:c.1192-80_1192-76del	NP_001350769.1:n.1192-80_1192-76del
NR_134256.2:n.1282-80_1282-76del