Canonical Allele Identifier: CA7644690

Gene: HEXA

Linked Data

• ClinVar Variation Id: 555101
• ClinVar RCV Id: RCV000670851
• dbSNP Id: rs780193130
• ExAC: 15:72638556 T / TC
• gnomAD v2: 15-72638556-T-TC
• gnomAD v3: 15-72346215-T-TC
• gnomAD v4: 15-72346215-T-TC
• MyVariant Identifiers: chr15:g.72638557_72638558insC (hg19) ; chr15:g.72638556_72638557insC (hg19) ; chr15:g.72346216dup (hg38) ; chr15:g.72346215_72346216insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346222dup , CM000677.2:g.72346222dup	GRCh38
NC_000015.9:g.72638563dup , CM000677.1:g.72638563dup	GRCh37
NC_000015.8:g.70425617dup	NCBI36
NG_009017.1:g.34964dup
NG_009017.2:g.34964dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*81+19dup	ENSP00000457521.2:n.*81+19dup
ENST00000682061.1:c.*1102dup	ENSP00000508316.1:n.*1102dup
ENST00000682064.1:n.983dup
ENST00000682177.1:c.1464+19dup	ENSP00000507409.1:n.1464+19dup
ENST00000682235.1:n.779dup
ENST00000682461.1:c.1527+19dup	ENSP00000507308.1:n.1527+19dup
ENST00000682653.1:n.1760dup
ENST00000682657.1:c.*593dup	ENSP00000507753.1:n.*593dup
ENST00000682721.1:c.*1224+19dup	ENSP00000507535.1:n.*1224+19dup
ENST00000682843.1:c.*1062+19dup	ENSP00000508173.1:n.*1062+19dup
ENST00000683003.1:c.*593dup	ENSP00000507576.1:n.*593dup
ENST00000683133.1:c.1605+19dup	ENSP00000508108.1:n.1605+19dup
ENST00000683243.1:c.*574+19dup	ENSP00000507042.1:n.*574+19dup
ENST00000683463.1:c.*245dup	ENSP00000507986.1:n.*245dup
ENST00000683548.1:n.1214dup
ENST00000683579.1:c.*1319+19dup	ENSP00000506867.1:n.*1319+19dup
ENST00000683587.1:n.1287dup
ENST00000683681.1:c.1421+19dup	ENSP00000508110.1:n.1421+19dup
ENST00000683735.1:c.*1154dup	ENSP00000508336.1:n.*1154dup
ENST00000683853.1:c.*226+19dup	ENSP00000506834.1:n.*226+19dup
ENST00000683860.1:c.1421+19dup	ENSP00000507179.1:n.1421+19dup
ENST00000683884.1:c.*83dup	ENSP00000507004.1:n.*83dup
ENST00000684041.1:c.*15dup	ENSP00000508382.1:n.*15dup
ENST00000684125.1:c.*81+19dup	ENSP00000507320.1:n.*81+19dup
ENST00000684203.1:n.3205dup
ENST00000684231.1:c.*831+19dup	ENSP00000507748.1:n.*831+19dup
ENST00000684263.1:c.*380dup	ENSP00000508369.1:n.*380dup
ENST00000684305.1:c.1869+19dup	ENSP00000506819.1:n.1869+19dup
ENST00000684415.1:c.*307dup	ENSP00000507227.1:n.*307dup
ENST00000684520.1:c.*15dup	ENSP00000506826.1:n.*15dup
ENST00000684602.1:c.*1087+19dup	ENSP00000507996.1:n.*1087+19dup
ENST00000684667.1:c.1752+19dup	ENSP00000507003.1:n.1752+19dup
ENST00000268097.10:c.1421+19dup MANE Select	ENSP00000268097.6:n.1421+19dup
ENST00000268097.9:c.1421+19dup	ENSP00000268097.5:n.1421+19dup
ENST00000379915.4:c.503+19dup	ENSP00000478716.1:n.503+19dup
ENST00000563762.5:c.935dup	ENSP00000456346.1:n.935dup
ENST00000566304.5:c.1454+19dup	ENSP00000455114.1:n.1454+19dup
ENST00000566672.5:c.*850dup	ENSP00000457037.1:n.*850dup
ENST00000567027.5:c.1036+19dup
ENST00000567159.5:c.1421+19dup	ENSP00000456489.1:n.1421+19dup
ENST00000567411.5:c.*942+19dup	ENSP00000455545.1:n.*942+19dup
ENST00000568777.5:n.6641+19dup
NM_000520.4:c.1421+19dup	NP_000511.2:n.1421+19dup
NM_000520.5:c.1421+19dup	NP_000511.2:n.1421+19dup
NM_001318825.1:c.1454+19dup	NP_001305754.1:n.1454+19dup
NR_134869.1:n.1665+19dup
NM_000520.6:c.1421+19dup MANE Select	NP_000511.2:n.1421+19dup
NM_001318825.2:c.1454+19dup	NP_001305754.1:n.1454+19dup
NR_134869.2:n.1206+19dup
NR_134869.3:n.1206+19dup