Canonical Allele Identifier: CA715470966

Gene: HEXA

Linked Data

• dbSNP Id: rs1270683867
• gnomAD v3: 15-72345762-CCA-C
• gnomAD v4: 15-72345762-CCA-C
• MyVariant Identifiers: chr15:g.72638104_72638105del (hg19) ; chr15:g.72345763_72345764del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345764_72345765del , CM000677.2:g.72345764_72345765del	GRCh38
NC_000015.9:g.72638105_72638106del , CM000677.1:g.72638105_72638106del	GRCh37
NC_000015.8:g.70425159_70425160del	NCBI36
NG_009017.1:g.35416_35417del
NG_009017.2:g.35416_35417del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-214_*82-213del	ENSP00000457521.2:n.*82-214_*82-213del
ENST00000682061.1:c.*1554_*1555del	ENSP00000508316.1:n.*1554_*1555del
ENST00000682064.1:n.1435_1436del
ENST00000682177.1:c.1465-214_1465-213del	ENSP00000507409.1:n.1465-214_1465-213del
ENST00000682235.1:n.1231_1232del
ENST00000682461.1:c.1528-214_1528-213del	ENSP00000507308.1:n.1528-214_1528-213del
ENST00000682653.1:n.2212_2213del
ENST00000682657.1:c.*1045_*1046del	ENSP00000507753.1:n.*1045_*1046del
ENST00000682721.1:c.*1225-214_*1225-213del	ENSP00000507535.1:n.*1225-214_*1225-213del
ENST00000682843.1:c.*1063-214_*1063-213del	ENSP00000508173.1:n.*1063-214_*1063-213del
ENST00000683003.1:c.*1045_*1046del	ENSP00000507576.1:n.*1045_*1046del
ENST00000683133.1:c.1606-214_1606-213del	ENSP00000508108.1:n.1606-214_1606-213del
ENST00000683243.1:c.*575-214_*575-213del	ENSP00000507042.1:n.*575-214_*575-213del
ENST00000683463.1:c.*697_*698del	ENSP00000507986.1:n.*697_*698del
ENST00000683548.1:n.1666_1667del
ENST00000683579.1:c.*1320-214_*1320-213del	ENSP00000506867.1:n.*1320-214_*1320-213del
ENST00000683587.1:n.1739_1740del
ENST00000683681.1:c.*12_*13del	ENSP00000508110.1:n.*12_*13del
ENST00000683735.1:c.*1606_*1607del	ENSP00000508336.1:n.*1606_*1607del
ENST00000683853.1:c.*227-214_*227-213del	ENSP00000506834.1:n.*227-214_*227-213del
ENST00000683860.1:c.*328_*329del	ENSP00000507179.1:n.*328_*329del
ENST00000683884.1:c.*535_*536del	ENSP00000507004.1:n.*535_*536del
ENST00000684041.1:c.*467_*468del	ENSP00000508382.1:n.*467_*468del
ENST00000684125.1:c.*82-214_*82-213del	ENSP00000507320.1:n.*82-214_*82-213del
ENST00000684203.1:n.3657_3658del
ENST00000684231.1:c.*832-214_*832-213del	ENSP00000507748.1:n.*832-214_*832-213del
ENST00000684263.1:c.*832_*833del	ENSP00000508369.1:n.*832_*833del
ENST00000684305.1:c.1870-214_1870-213del	ENSP00000506819.1:n.1870-214_1870-213del
ENST00000684415.1:c.*759_*760del	ENSP00000507227.1:n.*759_*760del
ENST00000684520.1:c.*467_*468del	ENSP00000506826.1:n.*467_*468del
ENST00000684602.1:c.*1088-214_*1088-213del	ENSP00000507996.1:n.*1088-214_*1088-213del
ENST00000684667.1:c.1753-214_1753-213del	ENSP00000507003.1:n.1753-214_1753-213del
ENST00000268097.10:c.1422-214_1422-213del MANE Select	ENSP00000268097.6:n.1422-214_1422-213del
ENST00000268097.9:c.1422-214_1422-213del	ENSP00000268097.5:n.1422-214_1422-213del
ENST00000379915.4:c.504-214_504-213del	ENSP00000478716.1:n.504-214_504-213del
ENST00000564677.5:n.126_127del
ENST00000565873.1:n.119_120del
ENST00000566304.5:c.1455-214_1455-213del	ENSP00000455114.1:n.1455-214_1455-213del
ENST00000567027.5:c.1037-214_1037-213del
ENST00000567159.5:c.1422-214_1422-213del	ENSP00000456489.1:n.1422-214_1422-213del
ENST00000567411.5:c.*943-214_*943-213del	ENSP00000455545.1:n.*943-214_*943-213del
ENST00000568777.5:n.6642-214_6642-213del
ENST00000569116.1:n.41_42del
NM_000520.4:c.1422-214_1422-213del	NP_000511.2:n.1422-214_1422-213del
NM_000520.5:c.1422-214_1422-213del	NP_000511.2:n.1422-214_1422-213del
NM_001318825.1:c.1455-214_1455-213del	NP_001305754.1:n.1455-214_1455-213del
NR_134869.1:n.1666-214_1666-213del
NM_000520.6:c.1422-214_1422-213del MANE Select	NP_000511.2:n.1422-214_1422-213del
NM_001318825.2:c.1455-214_1455-213del	NP_001305754.1:n.1455-214_1455-213del
NR_134869.2:n.1207-214_1207-213del
NR_134869.3:n.1207-214_1207-213del