Canonical Allele Identifier: CA2405724652

Gene: ADSL

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40365055_40365056delinsAG , CM000684.2:g.40365055_40365056delinsAG	GRCh38
NC_000022.10:g.40761059_40761060delinsAG , CM000684.1:g.40761059_40761060delinsAG	GRCh37
NC_000022.9:g.39091005_39091006delinsAG	NCBI36
NG_007993.1:g.23556_23557delinsAG
NG_007993.2:g.23556_23557delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*761_*762delinsAG	ENSP00000485462.2:n.*761_*762delinsAG
ENST00000623287.4:c.*792_*793delinsAG	ENSP00000485437.1:n.*792_*793delinsAG
ENST00000623632.4:c.1058_1059delinsAG	ENSP00000485288.2:p.Gln353=
ENST00000625194.4:c.1409_1410delinsAG	ENSP00000485289.2:p.Gln470=
ENST00000636433.1:n.1389_1390delinsAG
ENST00000636714.1:c.1367_1368delinsAG	ENSP00000490946.1:p.Gln456=
ENST00000637666.2:c.1191+690_1191+691delinsAG	ENSP00000489696.2:n.1191+690_1191+691delinsAG
ENST00000637669.1:c.1367_1368delinsAG	ENSP00000489728.1:p.Gln456=
ENST00000639722.1:c.*1063_*1064delinsAG	ENSP00000492828.1:n.*1063_*1064delinsAG
ENST00000674592.1:n.2881_2882delinsAG
ENST00000675622.1:n.4434_4435delinsAG
ENST00000679609.1:c.*977_*978delinsAG	ENSP00000506592.1:n.*977_*978delinsAG
ENST00000679656.1:n.2052_2053delinsAG
ENST00000679723.1:c.1322_1323delinsAG	ENSP00000505155.1:p.Gln441=
ENST00000679845.1:n.1675_1676delinsAG
ENST00000679904.1:n.1763_1764delinsAG
ENST00000680378.1:c.1454_1455delinsAG	ENSP00000505556.1:p.Gln485=
ENST00000680444.1:c.*730_*731delinsAG	ENSP00000505298.1:n.*730_*731delinsAG
ENST00000680978.1:c.1367_1368delinsAG	ENSP00000505244.1:p.Gln456=
ENST00000681003.1:n.830_831delinsAG
ENST00000681159.1:n.2771_2772delinsAG
ENST00000216194.11:c.1409_1410delinsAG	ENSP00000216194.8:p.Gln470=
ENST00000342312.9:c.1191+690_1191+691delinsAG	ENSP00000341429.6:n.1191+690_1191+691delinsAG
ENST00000423176.6:c.94_95delinsAG
ENST00000498234.2:c.25_26delinsAG
ENST00000623063.3:c.1367_1368delinsAG MANE Select	ENSP00000485525.1:p.Gln456=
ENST00000623387.1:n.498_499delinsAG
ENST00000623869.3:c.98_99delinsAG	ENSP00000485211.1:p.Gln33=
ENST00000624027.1:c.94_95delinsAG
ENST00000625194.3:c.996_997delinsAG
NM_000026.2:c.1367_1368delinsAG	NP_000017.1:p.Gln456=
NM_001123378.1:c.1191+690_1191+691delinsAG	NP_001116850.1:n.1191+690_1191+691delinsAG
XM_011529976.1:c.1367_1368delinsAG	XP_011528278.1:p.Gln456=
XM_011529977.1:c.1367_1368delinsAG	XP_011528279.1:p.Gln456=
XM_011529978.1:c.1191+690_1191+691delinsAG	XP_011528280.1:n.1191+690_1191+691delinsAG
XM_011529979.1:c.1367_1368delinsAG	XP_011528281.1:p.Gln456=
XM_011529980.1:c.1191+690_1191+691delinsAG	XP_011528282.1:n.1191+690_1191+691delinsAG
XM_011529981.1:c.902_903delinsAG	XP_011528283.1:p.Gln301=
XM_011529982.1:c.536_537delinsAG	XP_011528284.1:p.Gln179=
XR_937824.1:n.1457_1458delinsAG
XR_937825.1:n.1281+690_1281+691delinsAG
NM_000026.3:c.1367_1368delinsAG	NP_000017.1:p.Gln456=
NM_001123378.2:c.1191+690_1191+691delinsAG	NP_001116850.1:n.1191+690_1191+691delinsAG
NM_001317923.1:c.1175_1176delinsAG	NP_001304852.1:p.Gln392=
NM_001363840.1:c.1367_1368delinsAG	NP_001350769.1:p.Gln456=
NR_134256.1:n.1457_1458delinsAG
XM_011529977.3:c.1367_1368delinsAG	XP_011528279.1:p.Gln456=
XM_011529980.3:c.1191+690_1191+691delinsAG	XP_011528282.1:n.1191+690_1191+691delinsAG
XM_017028636.1:c.1322_1323delinsAG	XP_016884125.1:p.Gln441=
XM_017028637.1:c.1322_1323delinsAG	XP_016884126.1:p.Gln441=
XM_017028638.1:c.902_903delinsAG	XP_016884127.1:p.Gln301=
XM_017028639.2:c.902_903delinsAG	XP_016884128.1:p.Gln301=
XM_017028640.1:c.536_537delinsAG	XP_016884129.1:p.Gln179=
XM_024452166.1:c.1146+690_1146+691delinsAG	XP_024307934.1:n.1146+690_1146+691delinsAG
XR_001755176.2:n.1609_1610delinsAG
XR_002958670.1:n.1394_1395delinsAG
XR_937825.3:n.1279+690_1279+691delinsAG
NM_000026.4:c.1367_1368delinsAG MANE Select	NP_000017.1:p.Gln456=
NM_001363840.2:c.1367_1368delinsAG	NP_001350769.1:p.Gln456=
NM_001123378.3:c.1191+690_1191+691delinsAG	NP_001116850.1:n.1191+690_1191+691delinsAG
NM_001317923.2:c.1175_1176delinsAG	NP_001304852.1:p.Gln392=
NM_001363840.3:c.1367_1368delinsAG	NP_001350769.1:p.Gln456=
NR_134256.2:n.1457_1458delinsAG