Canonical Allele Identifier: CA2186743263

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345472_72345473delinsCA , CM000677.2:g.72345472_72345473delinsCA	GRCh38
NC_000015.9:g.72637813_72637814delinsCA , CM000677.1:g.72637813_72637814delinsCA	GRCh37
NC_000015.8:g.70424867_70424868delinsCA	NCBI36
NG_009017.1:g.35707_35708delinsTG
NG_009017.2:g.35707_35708delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*159_*160delinsTG	ENSP00000457521.2:n.*159_*160delinsTG
ENST00000682061.1:c.*1845_*1846delinsTG	ENSP00000508316.1:n.*1845_*1846delinsTG
ENST00000682064.1:n.1726_1727delinsTG
ENST00000682177.1:c.1542_1543delinsTG	ENSP00000507409.1:n.1542_1543delinsTG
ENST00000682235.1:n.1522_1523delinsTG
ENST00000682461.1:c.1605_1606delinsTG	ENSP00000507308.1:n.1605_1606delinsTG
ENST00000682653.1:n.2503_2504delinsTG
ENST00000682657.1:c.*1336_*1337delinsTG	ENSP00000507753.1:n.*1336_*1337delinsTG
ENST00000682721.1:c.*1302_*1303delinsTG	ENSP00000507535.1:n.*1302_*1303delinsTG
ENST00000682843.1:c.*1140_*1141delinsTG	ENSP00000508173.1:n.*1140_*1141delinsTG
ENST00000683003.1:c.*1336_*1337delinsTG	ENSP00000507576.1:n.*1336_*1337delinsTG
ENST00000683133.1:c.1683_1684delinsTG	ENSP00000508108.1:n.1683_1684delinsTG
ENST00000683243.1:c.*652_*653delinsTG	ENSP00000507042.1:n.*652_*653delinsTG
ENST00000683463.1:c.*988_*989delinsTG	ENSP00000507986.1:n.*988_*989delinsTG
ENST00000683548.1:n.1957_1958delinsTG
ENST00000683579.1:c.*1397_*1398delinsTG	ENSP00000506867.1:n.*1397_*1398delinsTG
ENST00000683587.1:n.2030_2031delinsTG
ENST00000683681.1:c.*177_*178delinsTG	ENSP00000508110.1:n.*177_*178delinsTG
ENST00000683735.1:c.*1897_*1898delinsTG	ENSP00000508336.1:n.*1897_*1898delinsTG
ENST00000683853.1:c.*304_*305delinsTG	ENSP00000506834.1:n.*304_*305delinsTG
ENST00000683860.1:c.*619_*620delinsTG	ENSP00000507179.1:n.*619_*620delinsTG
ENST00000683884.1:c.*826_*827delinsTG	ENSP00000507004.1:n.*826_*827delinsTG
ENST00000684041.1:c.*632_*633delinsTG	ENSP00000508382.1:n.*632_*633delinsTG
ENST00000684125.1:c.*159_*160delinsTG	ENSP00000507320.1:n.*159_*160delinsTG
ENST00000684203.1:n.3948_3949delinsTG
ENST00000684231.1:c.*909_*910delinsTG	ENSP00000507748.1:n.*909_*910delinsTG
ENST00000684263.1:c.*1123_*1124delinsTG	ENSP00000508369.1:n.*1123_*1124delinsTG
ENST00000684305.1:c.1947_1948delinsTG	ENSP00000506819.1:n.1947_1948delinsTG
ENST00000684415.1:c.*1050_*1051delinsTG	ENSP00000507227.1:n.*1050_*1051delinsTG
ENST00000684520.1:c.*758_*759delinsTG	ENSP00000506826.1:n.*758_*759delinsTG
ENST00000684602.1:c.*1165_*1166delinsTG	ENSP00000507996.1:n.*1165_*1166delinsTG
ENST00000684667.1:c.1830_1831delinsTG	ENSP00000507003.1:n.1830_1831delinsTG
ENST00000268097.10:c.1499_1500delinsTG MANE Select	ENSP00000268097.6:p.Leu500=
ENST00000268097.9:c.1499_1500delinsTG	ENSP00000268097.5:p.Leu500=
ENST00000379915.4:c.581_582delinsTG	ENSP00000478716.1:p.Leu194=
ENST00000564677.5:n.291_292delinsTG
ENST00000565873.1:n.410_411delinsTG
ENST00000566304.5:c.1532_1533delinsTG	ENSP00000455114.1:p.Leu511=
ENST00000567027.5:c.1114_1115delinsTG
ENST00000567159.5:c.1499_1500delinsTG	ENSP00000456489.1:p.Leu500=
ENST00000567411.5:c.*1020_*1021delinsTG	ENSP00000455545.1:n.*1020_*1021delinsTG
ENST00000568777.5:n.6719_6720delinsTG
ENST00000569116.1:n.206_207delinsTG
NM_000520.4:c.1499_1500delinsTG	NP_000511.2:p.Leu500=
NM_000520.5:c.1499_1500delinsTG	NP_000511.2:p.Leu500=
NM_001318825.1:c.1532_1533delinsTG	NP_001305754.1:p.Leu511=
NR_134869.1:n.1743_1744delinsTG
NM_000520.6:c.1499_1500delinsTG MANE Select	NP_000511.2:p.Leu500=
NM_001318825.2:c.1532_1533delinsTG	NP_001305754.1:p.Leu511=
NR_134869.2:n.1284_1285delinsTG
NR_134869.3:n.1284_1285delinsTG