Canonical Allele Identifier: CA2186743728

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346673_72346674delinsTC , CM000677.2:g.72346673_72346674delinsTC	GRCh38
NC_000015.9:g.72639014_72639015delinsTC , CM000677.1:g.72639014_72639015delinsTC	GRCh37
NC_000015.8:g.70426068_70426069delinsTC	NCBI36
NG_009017.1:g.34506_34507delinsGA
NG_009017.2:g.34506_34507delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-349_1074-348delinsGA	ENSP00000457521.2:n.1074-349_1074-348delinsGA
ENST00000682061.1:c.*845_*846delinsGA	ENSP00000508316.1:n.*845_*846delinsGA
ENST00000682064.1:n.525_526delinsGA
ENST00000682177.1:c.1226_1227delinsGA	ENSP00000507409.1:n.1226_1227delinsGA
ENST00000682235.1:n.522_523delinsGA
ENST00000682461.1:c.1289_1290delinsGA	ENSP00000507308.1:n.1289_1290delinsGA
ENST00000682653.1:n.1503_1504delinsGA
ENST00000682657.1:c.*484-349_*484-348delinsGA	ENSP00000507753.1:n.*484-349_*484-348delinsGA
ENST00000682721.1:c.*986_*987delinsGA	ENSP00000507535.1:n.*986_*987delinsGA
ENST00000682843.1:c.*972-349_*972-348delinsGA	ENSP00000508173.1:n.*972-349_*972-348delinsGA
ENST00000683003.1:c.*484-349_*484-348delinsGA	ENSP00000507576.1:n.*484-349_*484-348delinsGA
ENST00000683133.1:c.1367_1368delinsGA	ENSP00000508108.1:n.1367_1368delinsGA
ENST00000683243.1:c.*484-349_*484-348delinsGA	ENSP00000507042.1:n.*484-349_*484-348delinsGA
ENST00000683463.1:c.1110_1111delinsGA	ENSP00000507986.1:p.Arg370=
ENST00000683548.1:n.1105-349_1105-348delinsGA
ENST00000683579.1:c.*1081_*1082delinsGA	ENSP00000506867.1:n.*1081_*1082delinsGA
ENST00000683587.1:n.1178-349_1178-348delinsGA
ENST00000683681.1:c.1183_1184delinsGA	ENSP00000508110.1:p.Asp395=
ENST00000683735.1:c.*1045-349_*1045-348delinsGA	ENSP00000508336.1:n.*1045-349_*1045-348delinsGA
ENST00000683853.1:c.1110_1111delinsGA	ENSP00000506834.1:p.Arg370=
ENST00000683860.1:c.1183_1184delinsGA	ENSP00000507179.1:p.Asp395=
ENST00000683884.1:c.1147-349_1147-348delinsGA	ENSP00000507004.1:n.1147-349_1147-348delinsGA
ENST00000684041.1:c.1183_1184delinsGA	ENSP00000508382.1:p.Asp395=
ENST00000684125.1:c.1074-349_1074-348delinsGA	ENSP00000507320.1:n.1074-349_1074-348delinsGA
ENST00000684203.1:n.2948_2949delinsGA
ENST00000684231.1:c.*593_*594delinsGA	ENSP00000507748.1:n.*593_*594delinsGA
ENST00000684263.1:c.*123_*124delinsGA	ENSP00000508369.1:n.*123_*124delinsGA
ENST00000684305.1:c.1631_1632delinsGA	ENSP00000506819.1:n.1631_1632delinsGA
ENST00000684415.1:c.*50_*51delinsGA	ENSP00000507227.1:n.*50_*51delinsGA
ENST00000684520.1:c.1183_1184delinsGA	ENSP00000506826.1:p.Asp395=
ENST00000684602.1:c.*849_*850delinsGA	ENSP00000507996.1:n.*849_*850delinsGA
ENST00000684667.1:c.1514_1515delinsGA	ENSP00000507003.1:n.1514_1515delinsGA
ENST00000268097.10:c.1183_1184delinsGA MANE Select	ENSP00000268097.6:p.Asp395=
ENST00000268097.9:c.1183_1184delinsGA	ENSP00000268097.5:p.Asp395=
ENST00000379915.4:c.413-349_413-348delinsGA	ENSP00000478716.1:n.413-349_413-348delinsGA
ENST00000563762.5:c.826-349_826-348delinsGA	ENSP00000456346.1:n.826-349_826-348delinsGA
ENST00000566304.5:c.1216_1217delinsGA	ENSP00000455114.1:p.Asp406=
ENST00000566672.5:c.*593_*594delinsGA	ENSP00000457037.1:n.*593_*594delinsGA
ENST00000567027.5:c.946-349_946-348delinsGA
ENST00000567159.5:c.1183_1184delinsGA	ENSP00000456489.1:p.Asp395=
ENST00000567411.5:c.*704_*705delinsGA	ENSP00000455545.1:n.*704_*705delinsGA
ENST00000568777.5:n.6551-349_6551-348delinsGA
ENST00000569410.5:c.1110_1111delinsGA	ENSP00000457125.1:p.Arg370=
NM_000520.4:c.1183_1184delinsGA	NP_000511.2:p.Asp395=
NM_000520.5:c.1183_1184delinsGA	NP_000511.2:p.Asp395=
NM_001318825.1:c.1216_1217delinsGA	NP_001305754.1:p.Asp406=
NR_134869.1:n.1575-349_1575-348delinsGA
NM_000520.6:c.1183_1184delinsGA MANE Select	NP_000511.2:p.Asp395=
NM_001318825.2:c.1216_1217delinsGA	NP_001305754.1:p.Asp406=
NR_134869.2:n.1116-349_1116-348delinsGA
NR_134869.3:n.1116-349_1116-348delinsGA