Canonical Allele Identifier: CA2186743396

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345818_72345819delinsTA , CM000677.2:g.72345818_72345819delinsTA	GRCh38
NC_000015.9:g.72638159_72638160delinsTA , CM000677.1:g.72638159_72638160delinsTA	GRCh37
NC_000015.8:g.70425213_70425214delinsTA	NCBI36
NG_009017.1:g.35361_35362delinsTA
NG_009017.2:g.35361_35362delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-269_*82-268delinsTA	ENSP00000457521.2:n.*82-269_*82-268delinsTA
ENST00000682061.1:c.*1499_*1500delinsTA	ENSP00000508316.1:n.*1499_*1500delinsTA
ENST00000682064.1:n.1380_1381delinsTA
ENST00000682177.1:c.1465-269_1465-268delinsTA	ENSP00000507409.1:n.1465-269_1465-268delinsTA
ENST00000682235.1:n.1176_1177delinsTA
ENST00000682461.1:c.1528-269_1528-268delinsTA	ENSP00000507308.1:n.1528-269_1528-268delinsTA
ENST00000682653.1:n.2157_2158delinsTA
ENST00000682657.1:c.*990_*991delinsTA	ENSP00000507753.1:n.*990_*991delinsTA
ENST00000682721.1:c.*1225-269_*1225-268delinsTA	ENSP00000507535.1:n.*1225-269_*1225-268delinsTA
ENST00000682843.1:c.*1063-269_*1063-268delinsTA	ENSP00000508173.1:n.*1063-269_*1063-268delinsTA
ENST00000683003.1:c.*990_*991delinsTA	ENSP00000507576.1:n.*990_*991delinsTA
ENST00000683133.1:c.1606-269_1606-268delinsTA	ENSP00000508108.1:n.1606-269_1606-268delinsTA
ENST00000683243.1:c.*575-269_*575-268delinsTA	ENSP00000507042.1:n.*575-269_*575-268delinsTA
ENST00000683463.1:c.*642_*643delinsTA	ENSP00000507986.1:n.*642_*643delinsTA
ENST00000683548.1:n.1611_1612delinsTA
ENST00000683579.1:c.*1320-269_*1320-268delinsTA	ENSP00000506867.1:n.*1320-269_*1320-268delinsTA
ENST00000683587.1:n.1684_1685delinsTA
ENST00000683681.1:c.1422-43_1422-42delinsTA	ENSP00000508110.1:n.1422-43_1422-42delinsTA
ENST00000683735.1:c.*1551_*1552delinsTA	ENSP00000508336.1:n.*1551_*1552delinsTA
ENST00000683853.1:c.*227-269_*227-268delinsTA	ENSP00000506834.1:n.*227-269_*227-268delinsTA
ENST00000683860.1:c.*273_*274delinsTA	ENSP00000507179.1:n.*273_*274delinsTA
ENST00000683884.1:c.*480_*481delinsTA	ENSP00000507004.1:n.*480_*481delinsTA
ENST00000684041.1:c.*412_*413delinsTA	ENSP00000508382.1:n.*412_*413delinsTA
ENST00000684125.1:c.*82-269_*82-268delinsTA	ENSP00000507320.1:n.*82-269_*82-268delinsTA
ENST00000684203.1:n.3602_3603delinsTA
ENST00000684231.1:c.*832-269_*832-268delinsTA	ENSP00000507748.1:n.*832-269_*832-268delinsTA
ENST00000684263.1:c.*777_*778delinsTA	ENSP00000508369.1:n.*777_*778delinsTA
ENST00000684305.1:c.1870-269_1870-268delinsTA	ENSP00000506819.1:n.1870-269_1870-268delinsTA
ENST00000684415.1:c.*704_*705delinsTA	ENSP00000507227.1:n.*704_*705delinsTA
ENST00000684520.1:c.*412_*413delinsTA	ENSP00000506826.1:n.*412_*413delinsTA
ENST00000684602.1:c.*1088-269_*1088-268delinsTA	ENSP00000507996.1:n.*1088-269_*1088-268delinsTA
ENST00000684667.1:c.1753-269_1753-268delinsTA	ENSP00000507003.1:n.1753-269_1753-268delinsTA
ENST00000268097.10:c.1422-269_1422-268delinsTA MANE Select	ENSP00000268097.6:n.1422-269_1422-268delinsTA
ENST00000268097.9:c.1422-269_1422-268delinsTA	ENSP00000268097.5:n.1422-269_1422-268delinsTA
ENST00000379915.4:c.504-269_504-268delinsTA	ENSP00000478716.1:n.504-269_504-268delinsTA
ENST00000564677.5:n.71_72delinsTA
ENST00000565873.1:n.64_65delinsTA
ENST00000566304.5:c.1455-269_1455-268delinsTA	ENSP00000455114.1:n.1455-269_1455-268delinsTA
ENST00000567027.5:c.1037-269_1037-268delinsTA
ENST00000567159.5:c.1422-269_1422-268delinsTA	ENSP00000456489.1:n.1422-269_1422-268delinsTA
ENST00000567411.5:c.*943-269_*943-268delinsTA	ENSP00000455545.1:n.*943-269_*943-268delinsTA
ENST00000568777.5:n.6642-269_6642-268delinsTA
NM_000520.4:c.1422-269_1422-268delinsTA	NP_000511.2:n.1422-269_1422-268delinsTA
NM_000520.5:c.1422-269_1422-268delinsTA	NP_000511.2:n.1422-269_1422-268delinsTA
NM_001318825.1:c.1455-269_1455-268delinsTA	NP_001305754.1:n.1455-269_1455-268delinsTA
NR_134869.1:n.1666-269_1666-268delinsTA
NM_000520.6:c.1422-269_1422-268delinsTA MANE Select	NP_000511.2:n.1422-269_1422-268delinsTA
NM_001318825.2:c.1455-269_1455-268delinsTA	NP_001305754.1:n.1455-269_1455-268delinsTA
NR_134869.2:n.1207-269_1207-268delinsTA
NR_134869.3:n.1207-269_1207-268delinsTA