Canonical Allele Identifier: CA2546548296

Gene: ADSL

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364966_40364967insTTGAACACTTTTAAAAAGTC , CM000684.2:g.40364966_40364967insTTGAACACTTTTAAAAAGTC	GRCh38
NC_000022.10:g.40760970_40760971insTTGAACACTTTTAAAAAGTC , CM000684.1:g.40760970_40760971insTTGAACACTTTTAAAAAGTC	GRCh37
NC_000022.9:g.39090916_39090917insTTGAACACTTTTAAAAAGTC	NCBI36
NG_007993.1:g.23467_23468insTTGAACACTTTTAAAAAGTC
NG_007993.2:g.23467_23468insTTGAACACTTTTAAAAAGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000480775.3:c.*672_*673insTTGAACACTTTTAAAAAGTC	ENSP00000485462.2:n.*672_*673insTTGAACACT...
ENST00000623287.4:c.*703_*704insTTGAACACTTTTAAAAAGTC	ENSP00000485437.1:n.*703_*704insTTGAACACT...
ENST00000623632.4:c.969_970insTTGAACACTTTTAAAAAGTC	ENSP00000485288.2:p.Ile324LeufsTer?
ENST00000625194.4:c.1320_1321insTTGAACACTTTTAAAAAGTC	ENSP00000485289.2:p.Ile441LeufsTer?
ENST00000636433.1:n.1300_1301insTTGAACACTTTTAAAAAGTC
ENST00000636714.1:c.1278_1279insTTGAACACTTTTAAAAAGTC	ENSP00000490946.1:p.Ile427LeufsTer?
ENST00000637666.2:c.1191+601_1191+602insTTGAACACTTTTAAAAAGTC	ENSP00000489696.2:n.1191+601_1191+602insT...
ENST00000637669.1:c.1278_1279insTTGAACACTTTTAAAAAGTC	ENSP00000489728.1:p.Ile427LeufsTer?
ENST00000639722.1:c.*974_*975insTTGAACACTTTTAAAAAGTC	ENSP00000492828.1:n.*974_*975insTTGAACACT...
ENST00000674592.1:n.2792_2793insTTGAACACTTTTAAAAAGTC
ENST00000675622.1:n.4345_4346insTTGAACACTTTTAAAAAGTC
ENST00000679609.1:c.*888_*889insTTGAACACTTTTAAAAAGTC	ENSP00000506592.1:n.*888_*889insTTGAACACT...
ENST00000679656.1:n.1963_1964insTTGAACACTTTTAAAAAGTC
ENST00000679723.1:c.1233_1234insTTGAACACTTTTAAAAAGTC	ENSP00000505155.1:p.Ile412LeufsTer?
ENST00000679845.1:n.1586_1587insTTGAACACTTTTAAAAAGTC
ENST00000679904.1:n.1674_1675insTTGAACACTTTTAAAAAGTC
ENST00000680378.1:c.1365_1366insTTGAACACTTTTAAAAAGTC	ENSP00000505556.1:p.Ile456LeufsTer?
ENST00000680444.1:c.*641_*642insTTGAACACTTTTAAAAAGTC	ENSP00000505298.1:n.*641_*642insTTGAACACT...
ENST00000680978.1:c.1278_1279insTTGAACACTTTTAAAAAGTC	ENSP00000505244.1:p.Ile427LeufsTer?
ENST00000681003.1:n.741_742insTTGAACACTTTTAAAAAGTC
ENST00000681159.1:n.2682_2683insTTGAACACTTTTAAAAAGTC
ENST00000216194.11:c.1320_1321insTTGAACACTTTTAAAAAGTC	ENSP00000216194.8:p.Ile441LeufsTer?
ENST00000342312.9:c.1191+601_1191+602insTTGAACACTTTTAAAAAGTC	ENSP00000341429.6:n.1191+601_1191+602insT...
ENST00000423176.6:c.5_6insTTGAACACTTTTAAAAAGTC
ENST00000623063.3:c.1278_1279insTTGAACACTTTTAAAAAGTC MANE Select	ENSP00000485525.1:p.Ile427LeufsTer?
ENST00000623387.1:n.409_410insTTGAACACTTTTAAAAAGTC
ENST00000623869.3:c.9_10insTTGAACACTTTTAAAAAGTC	ENSP00000485211.1:p.Ile4LeufsTer?
ENST00000624027.1:c.5_6insTTGAACACTTTTAAAAAGTC
ENST00000625194.3:c.907_908insTTGAACACTTTTAAAAAGTC
NM_000026.2:c.1278_1279insTTGAACACTTTTAAAAAGTC	NP_000017.1:p.Ile427LeufsTer?
NM_001123378.1:c.1191+601_1191+602insTTGAACACTTTTAAAAAGTC	NP_001116850.1:n.1191+601_1191+602insTTGA...
XM_011529976.1:c.1278_1279insTTGAACACTTTTAAAAAGTC	XP_011528278.1:p.Ile427LeufsTer?
XM_011529977.1:c.1278_1279insTTGAACACTTTTAAAAAGTC	XP_011528279.1:p.Ile427LeufsTer?
XM_011529978.1:c.1191+601_1191+602insTTGAACACTTTTAAAAAGTC	XP_011528280.1:n.1191+601_1191+602insTTGA...
XM_011529979.1:c.1278_1279insTTGAACACTTTTAAAAAGTC	XP_011528281.1:p.Ile427LeufsTer?
XM_011529980.1:c.1191+601_1191+602insTTGAACACTTTTAAAAAGTC	XP_011528282.1:n.1191+601_1191+602insTTGA...
XM_011529981.1:c.813_814insTTGAACACTTTTAAAAAGTC	XP_011528283.1:p.Ile272LeufsTer?
XM_011529982.1:c.447_448insTTGAACACTTTTAAAAAGTC	XP_011528284.1:p.Ile150LeufsTer?
XR_937824.1:n.1368_1369insTTGAACACTTTTAAAAAGTC
XR_937825.1:n.1281+601_1281+602insTTGAACACTTTTAAAAAGTC
NM_000026.3:c.1278_1279insTTGAACACTTTTAAAAAGTC	NP_000017.1:p.Ile427LeufsTer?
NM_001123378.2:c.1191+601_1191+602insTTGAACACTTTTAAAAAGTC	NP_001116850.1:n.1191+601_1191+602insTTGA...
NM_001317923.1:c.1086_1087insTTGAACACTTTTAAAAAGTC	NP_001304852.1:p.Ile363LeufsTer?
NM_001363840.1:c.1278_1279insTTGAACACTTTTAAAAAGTC	NP_001350769.1:p.Ile427LeufsTer?
NR_134256.1:n.1368_1369insTTGAACACTTTTAAAAAGTC
XM_011529977.3:c.1278_1279insTTGAACACTTTTAAAAAGTC	XP_011528279.1:p.Ile427LeufsTer?
XM_011529980.3:c.1191+601_1191+602insTTGAACACTTTTAAAAAGTC	XP_011528282.1:n.1191+601_1191+602insTTGA...
XM_017028636.1:c.1233_1234insTTGAACACTTTTAAAAAGTC	XP_016884125.1:p.Ile412LeufsTer?
XM_017028637.1:c.1233_1234insTTGAACACTTTTAAAAAGTC	XP_016884126.1:p.Ile412LeufsTer?
XM_017028638.1:c.813_814insTTGAACACTTTTAAAAAGTC	XP_016884127.1:p.Ile272LeufsTer?
XM_017028639.2:c.813_814insTTGAACACTTTTAAAAAGTC	XP_016884128.1:p.Ile272LeufsTer?
XM_017028640.1:c.447_448insTTGAACACTTTTAAAAAGTC	XP_016884129.1:p.Ile150LeufsTer?
XM_024452166.1:c.1146+601_1146+602insTTGAACACTTTTAAAAAGTC	XP_024307934.1:n.1146+601_1146+602insTTGA...
XR_001755176.2:n.1520_1521insTTGAACACTTTTAAAAAGTC
XR_002958670.1:n.1305_1306insTTGAACACTTTTAAAAAGTC
XR_937825.3:n.1279+601_1279+602insTTGAACACTTTTAAAAAGTC
NM_000026.4:c.1278_1279insTTGAACACTTTTAAAAAGTC MANE Select	NP_000017.1:p.Ile427LeufsTer?
NM_001363840.2:c.1278_1279insTTGAACACTTTTAAAAAGTC	NP_001350769.1:p.Ile427LeufsTer?
NM_001123378.3:c.1191+601_1191+602insTTGAACACTTTTAAAAAGTC	NP_001116850.1:n.1191+601_1191+602insTTGA...
NM_001317923.2:c.1086_1087insTTGAACACTTTTAAAAAGTC	NP_001304852.1:p.Ile363LeufsTer?
NM_001363840.3:c.1278_1279insTTGAACACTTTTAAAAAGTC	NP_001350769.1:p.Ile427LeufsTer?
NR_134256.2:n.1368_1369insTTGAACACTTTTAAAAAGTC