Canonical Allele Identifier: CA971330886

Gene: HEXA

Linked Data

• gnomAD v3: 15-72347300-T-TCTCG
• gnomAD v4: 15-72347300-T-TCTCG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347303_72347304insGCTC , CM000677.2:g.72347303_72347304insGCTC	GRCh38
NC_000015.9:g.72639644_72639645insGCTC , CM000677.1:g.72639644_72639645insGCTC	GRCh37
NC_000015.8:g.70426698_70426699insGCTC	NCBI36
NG_009017.1:g.33879_33880insCGAG
NG_009017.2:g.33879_33880insCGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+747_1073+748insCGAG	ENSP00000457521.2:n.1073+747_1073+748insCGAG
ENST00000682061.1:c.*808+385_*808+386insCGAG	ENSP00000508316.1:n.*808+385_*808+386insCGAG
ENST00000682177.1:c.1189+385_1189+386insCGAG	ENSP00000507409.1:n.1189+385_1189+386insCGAG
ENST00000682461.1:c.1252+385_1252+386insCGAG	ENSP00000507308.1:n.1252+385_1252+386insCGAG
ENST00000682653.1:n.1466+385_1466+386insCGAG
ENST00000682657.1:c.*483+747_*483+748insCGAG	ENSP00000507753.1:n.*483+747_*483+748insCGAG
ENST00000682721.1:c.*949+385_*949+386insCGAG	ENSP00000507535.1:n.*949+385_*949+386insCGAG
ENST00000682843.1:c.*971+747_*971+748insCGAG	ENSP00000508173.1:n.*971+747_*971+748insCGAG
ENST00000683003.1:c.*483+747_*483+748insCGAG	ENSP00000507576.1:n.*483+747_*483+748insCGAG
ENST00000683133.1:c.1330+385_1330+386insCGAG	ENSP00000508108.1:n.1330+385_1330+386insCGAG
ENST00000683228.1:n.1562_1563insCGAG
ENST00000683243.1:c.*483+747_*483+748insCGAG	ENSP00000507042.1:n.*483+747_*483+748insCGAG
ENST00000683463.1:c.1074-591_1074-590insCGAG	ENSP00000507986.1:n.1074-591_1074-590insCGAG
ENST00000683548.1:n.1104+747_1104+748insCGAG
ENST00000683579.1:c.*1044+385_*1044+386insCGAG	ENSP00000506867.1:n.*1044+385_*1044+386insCGAG
ENST00000683587.1:n.1177+385_1177+386insCGAG
ENST00000683681.1:c.1146+385_1146+386insCGAG	ENSP00000508110.1:n.1146+385_1146+386insCGAG
ENST00000683735.1:c.*1044+385_*1044+386insCGAG	ENSP00000508336.1:n.*1044+385_*1044+386insCGAG
ENST00000683742.1:n.1362_1363insCGAG
ENST00000683853.1:c.1074-591_1074-590insCGAG	ENSP00000506834.1:n.1074-591_1074-590insCGAG
ENST00000683860.1:c.1146+385_1146+386insCGAG	ENSP00000507179.1:n.1146+385_1146+386insCGAG
ENST00000683884.1:c.1146+385_1146+386insCGAG	ENSP00000507004.1:n.1146+385_1146+386insCGAG
ENST00000684041.1:c.1146+385_1146+386insCGAG	ENSP00000508382.1:n.1146+385_1146+386insCGAG
ENST00000684125.1:c.1073+747_1073+748insCGAG	ENSP00000507320.1:n.1073+747_1073+748insCGAG
ENST00000684203.1:n.2912-591_2912-590insCGAG
ENST00000684231.1:c.*556+385_*556+386insCGAG	ENSP00000507748.1:n.*556+385_*556+386insCGAG
ENST00000684263.1:c.*86+385_*86+386insCGAG	ENSP00000508369.1:n.*86+385_*86+386insCGAG
ENST00000684305.1:c.1594+385_1594+386insCGAG	ENSP00000506819.1:n.1594+385_1594+386insCGAG
ENST00000684415.1:c.*14-591_*14-590insCGAG	ENSP00000507227.1:n.*14-591_*14-590insCGAG
ENST00000684520.1:c.1146+385_1146+386insCGAG	ENSP00000506826.1:n.1146+385_1146+386insCGAG
ENST00000684602.1:c.*812+385_*812+386insCGAG	ENSP00000507996.1:n.*812+385_*812+386insCGAG
ENST00000684667.1:c.1477+385_1477+386insCGAG	ENSP00000507003.1:n.1477+385_1477+386insCGAG
ENST00000268097.10:c.1146+385_1146+386insCGAG MANE Select	ENSP00000268097.6:n.1146+385_1146+386insCGAG
ENST00000268097.9:c.1146+385_1146+386insCGAG	ENSP00000268097.5:n.1146+385_1146+386insCGAG
ENST00000379915.4:c.413-976_413-975insCGAG	ENSP00000478716.1:n.413-976_413-975insCGAG
ENST00000563762.5:c.825+747_825+748insCGAG	ENSP00000456346.1:n.825+747_825+748insCGAG
ENST00000566304.5:c.1179+385_1179+386insCGAG	ENSP00000455114.1:n.1179+385_1179+386insCGAG
ENST00000566672.5:c.*556+385_*556+386insCGAG	ENSP00000457037.1:n.*556+385_*556+386insCGAG
ENST00000567027.5:c.945+747_945+748insCGAG
ENST00000567159.5:c.1146+385_1146+386insCGAG	ENSP00000456489.1:n.1146+385_1146+386insCGAG
ENST00000567411.5:c.*667+385_*667+386insCGAG	ENSP00000455545.1:n.*667+385_*667+386insCGAG
ENST00000568777.5:n.6550+385_6550+386insCGAG
ENST00000569410.5:c.1074-591_1074-590insCGAG	ENSP00000457125.1:n.1074-591_1074-590insCGAG
NM_000520.4:c.1146+385_1146+386insCGAG	NP_000511.2:n.1146+385_1146+386insCGAG
NM_000520.5:c.1146+385_1146+386insCGAG	NP_000511.2:n.1146+385_1146+386insCGAG
NM_001318825.1:c.1179+385_1179+386insCGAG	NP_001305754.1:n.1179+385_1179+386insCGAG
NR_134869.1:n.1574+747_1574+748insCGAG
NM_000520.6:c.1146+385_1146+386insCGAG MANE Select	NP_000511.2:n.1146+385_1146+386insCGAG
NM_001318825.2:c.1179+385_1179+386insCGAG	NP_001305754.1:n.1179+385_1179+386insCGAG
NR_134869.2:n.1115+747_1115+748insCGAG
NR_134869.3:n.1115+747_1115+748insCGAG