Canonical Allele Identifier: CA618766175

Gene: HEXA

Linked Data

• dbSNP Id: rs1555472488
• gnomAD v2: 15-72639563-TAG-T
• gnomAD v3: 15-72347222-TAG-T
• gnomAD v4: 15-72347222-TAG-T
• MyVariant Identifiers: chr15:g.72639564_72639619delinsTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCC (hg19) ; chr15:g.72347223_72347278delinsTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347223_72347224del , CM000677.2:g.72347223_72347224del	GRCh38
NC_000015.9:g.72639564_72639565del , CM000677.1:g.72639564_72639565del	GRCh37
NC_000015.8:g.70426618_70426619del	NCBI36
NG_009017.1:g.33956_33957del
NG_009017.2:g.33956_33957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+824_1073+825del	ENSP00000457521.2:n.1073+824_1073+825del
ENST00000682061.1:c.*808+462_*808+463del	ENSP00000508316.1:n.*808+462_*808+463del
ENST00000682177.1:c.1189+462_1189+463del	ENSP00000507409.1:n.1189+462_1189+463del
ENST00000682461.1:c.1252+462_1252+463del	ENSP00000507308.1:n.1252+462_1252+463del
ENST00000682653.1:n.1466+462_1466+463del
ENST00000682657.1:c.*483+824_*483+825del	ENSP00000507753.1:n.*483+824_*483+825del
ENST00000682721.1:c.*949+462_*949+463del	ENSP00000507535.1:n.*949+462_*949+463del
ENST00000682843.1:c.*971+824_*971+825del	ENSP00000508173.1:n.*971+824_*971+825del
ENST00000683003.1:c.*483+824_*483+825del	ENSP00000507576.1:n.*483+824_*483+825del
ENST00000683133.1:c.1330+462_1330+463del	ENSP00000508108.1:n.1330+462_1330+463del
ENST00000683243.1:c.*483+824_*483+825del	ENSP00000507042.1:n.*483+824_*483+825del
ENST00000683463.1:c.1074-514_1074-513del	ENSP00000507986.1:n.1074-514_1074-513del
ENST00000683548.1:n.1104+824_1104+825del
ENST00000683579.1:c.*1044+462_*1044+463del	ENSP00000506867.1:n.*1044+462_*1044+463del
ENST00000683587.1:n.1177+462_1177+463del
ENST00000683681.1:c.1146+462_1146+463del	ENSP00000508110.1:n.1146+462_1146+463del
ENST00000683735.1:c.*1044+462_*1044+463del	ENSP00000508336.1:n.*1044+462_*1044+463del
ENST00000683742.1:n.1439_1440del
ENST00000683853.1:c.1074-514_1074-513del	ENSP00000506834.1:n.1074-514_1074-513del
ENST00000683860.1:c.1146+462_1146+463del	ENSP00000507179.1:n.1146+462_1146+463del
ENST00000683884.1:c.1146+462_1146+463del	ENSP00000507004.1:n.1146+462_1146+463del
ENST00000684041.1:c.1146+462_1146+463del	ENSP00000508382.1:n.1146+462_1146+463del
ENST00000684125.1:c.1073+824_1073+825del	ENSP00000507320.1:n.1073+824_1073+825del
ENST00000684203.1:n.2912-514_2912-513del
ENST00000684231.1:c.*556+462_*556+463del	ENSP00000507748.1:n.*556+462_*556+463del
ENST00000684263.1:c.*86+462_*86+463del	ENSP00000508369.1:n.*86+462_*86+463del
ENST00000684305.1:c.1594+462_1594+463del	ENSP00000506819.1:n.1594+462_1594+463del
ENST00000684415.1:c.*14-514_*14-513del	ENSP00000507227.1:n.*14-514_*14-513del
ENST00000684520.1:c.1146+462_1146+463del	ENSP00000506826.1:n.1146+462_1146+463del
ENST00000684602.1:c.*812+462_*812+463del	ENSP00000507996.1:n.*812+462_*812+463del
ENST00000684667.1:c.1477+462_1477+463del	ENSP00000507003.1:n.1477+462_1477+463del
ENST00000268097.10:c.1146+462_1146+463del MANE Select	ENSP00000268097.6:n.1146+462_1146+463del
ENST00000268097.9:c.1146+462_1146+463del	ENSP00000268097.5:n.1146+462_1146+463del
ENST00000379915.4:c.413-899_413-898del	ENSP00000478716.1:n.413-899_413-898del
ENST00000563762.5:c.825+824_825+825del	ENSP00000456346.1:n.825+824_825+825del
ENST00000566304.5:c.1179+462_1179+463del	ENSP00000455114.1:n.1179+462_1179+463del
ENST00000566672.5:c.*556+462_*556+463del	ENSP00000457037.1:n.*556+462_*556+463del
ENST00000567027.5:c.945+824_945+825del
ENST00000567159.5:c.1146+462_1146+463del	ENSP00000456489.1:n.1146+462_1146+463del
ENST00000567411.5:c.*667+462_*667+463del	ENSP00000455545.1:n.*667+462_*667+463del
ENST00000568777.5:n.6550+462_6550+463del
ENST00000569410.5:c.1074-514_1074-513del	ENSP00000457125.1:n.1074-514_1074-513del
NM_000520.4:c.1146+462_1146+463del	NP_000511.2:n.1146+462_1146+463del
NM_000520.5:c.1146+462_1146+463del	NP_000511.2:n.1146+462_1146+463del
NM_001318825.1:c.1179+462_1179+463del	NP_001305754.1:n.1179+462_1179+463del
NR_134869.1:n.1574+824_1574+825del
NM_000520.6:c.1146+462_1146+463del MANE Select	NP_000511.2:n.1146+462_1146+463del
NM_001318825.2:c.1179+462_1179+463del	NP_001305754.1:n.1179+462_1179+463del
NR_134869.2:n.1115+824_1115+825del
NR_134869.3:n.1115+824_1115+825del