Canonical Allele Identifier: CA618766112

Gene: HEXA

Linked Data

• dbSNP Id: rs1555472481
• gnomAD v2: 15-72639546-G-GTTTTTTTTTTTTTTTTTTT
• gnomAD v3: 15-72347205-G-GTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 15-72347205-G-GTTTTTTTTTTTTTTTTTTT
• MyVariant Identifiers: chr15:g.72639546_72639547insTTTTTTTTTTTTTTTTTTT (hg19) ; chr15:g.72347205_72347206insTTTTTTTTTTTTTTTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347207_72347208insTTTTTTTTTTTTTTTTTTT , CM000677.2:g.72347207_72347208insTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000015.9:g.72639548_72639549insTTTTTTTTTTTTTTTTTTT , CM000677.1:g.72639548_72639549insTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000015.8:g.70426602_70426603insTTTTTTTTTTTTTTTTTTT	NCBI36
NG_009017.1:g.33974_33975insAAAAAAAAAAAAAAAAAAA
NG_009017.2:g.33974_33975insAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+842_1073+843insAAAAAAAAAAAAAAAAAAA	ENSP00000457521.2:n.1073+842_1073+843insAAAAAAAAAAAAAAAAAAA
ENST00000682061.1:c.*808+480_*808+481insAAAAAAAAAAAAAAAAAAA	ENSP00000508316.1:n.*808+480_*808+481insAAAAAAAAAAAAAAAAAAA
ENST00000682177.1:c.1189+480_1189+481insAAAAAAAAAAAAAAAAAAA	ENSP00000507409.1:n.1189+480_1189+481insAAAAAAAAAAAAAAAAAAA
ENST00000682461.1:c.1252+480_1252+481insAAAAAAAAAAAAAAAAAAA	ENSP00000507308.1:n.1252+480_1252+481insAAAAAAAAAAAAAAAAAAA
ENST00000682653.1:n.1466+480_1466+481insAAAAAAAAAAAAAAAAAAA
ENST00000682657.1:c.*483+842_*483+843insAAAAAAAAAAAAAAAAAAA	ENSP00000507753.1:n.*483+842_*483+843insAAAAAAAAAAAAAAAAAAA
ENST00000682721.1:c.*949+480_*949+481insAAAAAAAAAAAAAAAAAAA	ENSP00000507535.1:n.*949+480_*949+481insAAAAAAAAAAAAAAAAAAA
ENST00000682843.1:c.*971+842_*971+843insAAAAAAAAAAAAAAAAAAA	ENSP00000508173.1:n.*971+842_*971+843insAAAAAAAAAAAAAAAAAAA
ENST00000683003.1:c.*483+842_*483+843insAAAAAAAAAAAAAAAAAAA	ENSP00000507576.1:n.*483+842_*483+843insAAAAAAAAAAAAAAAAAAA
ENST00000683133.1:c.1330+480_1330+481insAAAAAAAAAAAAAAAAAAA	ENSP00000508108.1:n.1330+480_1330+481insAAAAAAAAAAAAAAAAAAA
ENST00000683243.1:c.*483+842_*483+843insAAAAAAAAAAAAAAAAAAA	ENSP00000507042.1:n.*483+842_*483+843insAAAAAAAAAAAAAAAAAAA
ENST00000683463.1:c.1074-496_1074-495insAAAAAAAAAAAAAAAAAAA	ENSP00000507986.1:n.1074-496_1074-495insAAAAAAAAAAAAAAAAAAA
ENST00000683548.1:n.1104+842_1104+843insAAAAAAAAAAAAAAAAAAA
ENST00000683579.1:c.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAA	ENSP00000506867.1:n.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAA...
ENST00000683587.1:n.1177+480_1177+481insAAAAAAAAAAAAAAAAAAA
ENST00000683681.1:c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA	ENSP00000508110.1:n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA
ENST00000683735.1:c.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAA	ENSP00000508336.1:n.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAA...
ENST00000683742.1:n.1457_1458insAAAAAAAAAAAAAAAAAAA
ENST00000683853.1:c.1074-496_1074-495insAAAAAAAAAAAAAAAAAAA	ENSP00000506834.1:n.1074-496_1074-495insAAAAAAAAAAAAAAAAAAA
ENST00000683860.1:c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA	ENSP00000507179.1:n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA
ENST00000683884.1:c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA	ENSP00000507004.1:n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA
ENST00000684041.1:c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA	ENSP00000508382.1:n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA
ENST00000684125.1:c.1073+842_1073+843insAAAAAAAAAAAAAAAAAAA	ENSP00000507320.1:n.1073+842_1073+843insAAAAAAAAAAAAAAAAAAA
ENST00000684203.1:n.2912-496_2912-495insAAAAAAAAAAAAAAAAAAA
ENST00000684231.1:c.*556+480_*556+481insAAAAAAAAAAAAAAAAAAA	ENSP00000507748.1:n.*556+480_*556+481insAAAAAAAAAAAAAAAAAAA
ENST00000684263.1:c.*86+480_*86+481insAAAAAAAAAAAAAAAAAAA	ENSP00000508369.1:n.*86+480_*86+481insAAAAAAAAAAAAAAAAAAA
ENST00000684305.1:c.1594+480_1594+481insAAAAAAAAAAAAAAAAAAA	ENSP00000506819.1:n.1594+480_1594+481insAAAAAAAAAAAAAAAAAAA
ENST00000684415.1:c.*14-496_*14-495insAAAAAAAAAAAAAAAAAAA	ENSP00000507227.1:n.*14-496_*14-495insAAAAAAAAAAAAAAAAAAA
ENST00000684520.1:c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA	ENSP00000506826.1:n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA
ENST00000684602.1:c.*812+480_*812+481insAAAAAAAAAAAAAAAAAAA	ENSP00000507996.1:n.*812+480_*812+481insAAAAAAAAAAAAAAAAAAA
ENST00000684667.1:c.1477+480_1477+481insAAAAAAAAAAAAAAAAAAA	ENSP00000507003.1:n.1477+480_1477+481insAAAAAAAAAAAAAAAAAAA
ENST00000268097.10:c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000268097.6:n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA
ENST00000268097.9:c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA	ENSP00000268097.5:n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA
ENST00000379915.4:c.413-881_413-880insAAAAAAAAAAAAAAAAAAA	ENSP00000478716.1:n.413-881_413-880insAAAAAAAAAAAAAAAAAAA
ENST00000563762.5:c.825+842_825+843insAAAAAAAAAAAAAAAAAAA	ENSP00000456346.1:n.825+842_825+843insAAAAAAAAAAAAAAAAAAA
ENST00000566304.5:c.1179+480_1179+481insAAAAAAAAAAAAAAAAAAA	ENSP00000455114.1:n.1179+480_1179+481insAAAAAAAAAAAAAAAAAAA
ENST00000566672.5:c.*556+480_*556+481insAAAAAAAAAAAAAAAAAAA	ENSP00000457037.1:n.*556+480_*556+481insAAAAAAAAAAAAAAAAAAA
ENST00000567027.5:c.945+842_945+843insAAAAAAAAAAAAAAAAAAA
ENST00000567159.5:c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA	ENSP00000456489.1:n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA
ENST00000567411.5:c.*667+480_*667+481insAAAAAAAAAAAAAAAAAAA	ENSP00000455545.1:n.*667+480_*667+481insAAAAAAAAAAAAAAAAAAA
ENST00000568777.5:n.6550+480_6550+481insAAAAAAAAAAAAAAAAAAA
ENST00000569410.5:c.1074-496_1074-495insAAAAAAAAAAAAAAAAAAA	ENSP00000457125.1:n.1074-496_1074-495insAAAAAAAAAAAAAAAAAAA
NM_000520.4:c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA	NP_000511.2:n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA
NM_000520.5:c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA	NP_000511.2:n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA
NM_001318825.1:c.1179+480_1179+481insAAAAAAAAAAAAAAAAAAA	NP_001305754.1:n.1179+480_1179+481insAAAAAAAAAAAAAAAAAAA
NR_134869.1:n.1574+842_1574+843insAAAAAAAAAAAAAAAAAAA
NM_000520.6:c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA MANE Select	NP_000511.2:n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA
NM_001318825.2:c.1179+480_1179+481insAAAAAAAAAAAAAAAAAAA	NP_001305754.1:n.1179+480_1179+481insAAAAAAAAAAAAAAAAAAA
NR_134869.2:n.1115+842_1115+843insAAAAAAAAAAAAAAAAAAA
NR_134869.3:n.1115+842_1115+843insAAAAAAAAAAAAAAAAAAA