Canonical Allele Identifier: CA2186743737

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346688_72346689delinsTG , CM000677.2:g.72346688_72346689delinsTG	GRCh38
NC_000015.9:g.72639029_72639030delinsTG , CM000677.1:g.72639029_72639030delinsTG	GRCh37
NC_000015.8:g.70426083_70426084delinsTG	NCBI36
NG_009017.1:g.34491_34492delinsCA
NG_009017.2:g.34491_34492delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-364_1074-363delinsCA	ENSP00000457521.2:n.1074-364_1074-363delinsCA
ENST00000682061.1:c.*830_*831delinsCA	ENSP00000508316.1:n.*830_*831delinsCA
ENST00000682064.1:n.510_511delinsCA
ENST00000682177.1:c.1211_1212delinsCA	ENSP00000507409.1:n.1211_1212delinsCA
ENST00000682235.1:n.507_508delinsCA
ENST00000682461.1:c.1274_1275delinsCA	ENSP00000507308.1:n.1274_1275delinsCA
ENST00000682653.1:n.1488_1489delinsCA
ENST00000682657.1:c.*484-364_*484-363delinsCA	ENSP00000507753.1:n.*484-364_*484-363delinsCA
ENST00000682721.1:c.*971_*972delinsCA	ENSP00000507535.1:n.*971_*972delinsCA
ENST00000682843.1:c.*972-364_*972-363delinsCA	ENSP00000508173.1:n.*972-364_*972-363delinsCA
ENST00000683003.1:c.*484-364_*484-363delinsCA	ENSP00000507576.1:n.*484-364_*484-363delinsCA
ENST00000683133.1:c.1352_1353delinsCA	ENSP00000508108.1:n.1352_1353delinsCA
ENST00000683243.1:c.*484-364_*484-363delinsCA	ENSP00000507042.1:n.*484-364_*484-363delinsCA
ENST00000683463.1:c.1095_1096delinsCA	ENSP00000507986.1:p.Tyr365=
ENST00000683548.1:n.1105-364_1105-363delinsCA
ENST00000683579.1:c.*1066_*1067delinsCA	ENSP00000506867.1:n.*1066_*1067delinsCA
ENST00000683587.1:n.1178-364_1178-363delinsCA
ENST00000683681.1:c.1168_1169delinsCA	ENSP00000508110.1:p.Gln390=
ENST00000683735.1:c.*1045-364_*1045-363delinsCA	ENSP00000508336.1:n.*1045-364_*1045-363delinsCA
ENST00000683853.1:c.1095_1096delinsCA	ENSP00000506834.1:p.Tyr365=
ENST00000683860.1:c.1168_1169delinsCA	ENSP00000507179.1:p.Gln390=
ENST00000683884.1:c.1147-364_1147-363delinsCA	ENSP00000507004.1:n.1147-364_1147-363delinsCA
ENST00000684041.1:c.1168_1169delinsCA	ENSP00000508382.1:p.Gln390=
ENST00000684125.1:c.1074-364_1074-363delinsCA	ENSP00000507320.1:n.1074-364_1074-363delinsCA
ENST00000684203.1:n.2933_2934delinsCA
ENST00000684231.1:c.*578_*579delinsCA	ENSP00000507748.1:n.*578_*579delinsCA
ENST00000684263.1:c.*108_*109delinsCA	ENSP00000508369.1:n.*108_*109delinsCA
ENST00000684305.1:c.1616_1617delinsCA	ENSP00000506819.1:n.1616_1617delinsCA
ENST00000684415.1:c.*35_*36delinsCA	ENSP00000507227.1:n.*35_*36delinsCA
ENST00000684520.1:c.1168_1169delinsCA	ENSP00000506826.1:p.Gln390=
ENST00000684602.1:c.*834_*835delinsCA	ENSP00000507996.1:n.*834_*835delinsCA
ENST00000684667.1:c.1499_1500delinsCA	ENSP00000507003.1:n.1499_1500delinsCA
ENST00000268097.10:c.1168_1169delinsCA MANE Select	ENSP00000268097.6:p.Gln390=
ENST00000268097.9:c.1168_1169delinsCA	ENSP00000268097.5:p.Gln390=
ENST00000379915.4:c.413-364_413-363delinsCA	ENSP00000478716.1:n.413-364_413-363delinsCA
ENST00000563762.5:c.826-364_826-363delinsCA	ENSP00000456346.1:n.826-364_826-363delinsCA
ENST00000566304.5:c.1201_1202delinsCA	ENSP00000455114.1:p.Gln401=
ENST00000566672.5:c.*578_*579delinsCA	ENSP00000457037.1:n.*578_*579delinsCA
ENST00000567027.5:c.946-364_946-363delinsCA
ENST00000567159.5:c.1168_1169delinsCA	ENSP00000456489.1:p.Gln390=
ENST00000567411.5:c.*689_*690delinsCA	ENSP00000455545.1:n.*689_*690delinsCA
ENST00000568777.5:n.6551-364_6551-363delinsCA
ENST00000569410.5:c.1095_1096delinsCA	ENSP00000457125.1:p.Tyr365=
NM_000520.4:c.1168_1169delinsCA	NP_000511.2:p.Gln390=
NM_000520.5:c.1168_1169delinsCA	NP_000511.2:p.Gln390=
NM_001318825.1:c.1201_1202delinsCA	NP_001305754.1:p.Gln401=
NR_134869.1:n.1575-364_1575-363delinsCA
NM_000520.6:c.1168_1169delinsCA MANE Select	NP_000511.2:p.Gln390=
NM_001318825.2:c.1201_1202delinsCA	NP_001305754.1:p.Gln401=
NR_134869.2:n.1116-364_1116-363delinsCA
NR_134869.3:n.1116-364_1116-363delinsCA