Canonical Allele Identifier: CA2629340417

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345760-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345763del , CM000677.2:g.72345763del	GRCh38
NC_000015.9:g.72638104del , CM000677.1:g.72638104del	GRCh37
NC_000015.8:g.70425158del	NCBI36
NG_009017.1:g.35419del
NG_009017.2:g.35419del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-211del	ENSP00000457521.2:n.*82-211del
ENST00000682061.1:c.*1557del	ENSP00000508316.1:n.*1557del
ENST00000682064.1:n.1438del
ENST00000682177.1:c.1465-211del	ENSP00000507409.1:n.1465-211del
ENST00000682235.1:n.1234del
ENST00000682461.1:c.1528-211del	ENSP00000507308.1:n.1528-211del
ENST00000682653.1:n.2215del
ENST00000682657.1:c.*1048del	ENSP00000507753.1:n.*1048del
ENST00000682721.1:c.*1225-211del	ENSP00000507535.1:n.*1225-211del
ENST00000682843.1:c.*1063-211del	ENSP00000508173.1:n.*1063-211del
ENST00000683003.1:c.*1048del	ENSP00000507576.1:n.*1048del
ENST00000683133.1:c.1606-211del	ENSP00000508108.1:n.1606-211del
ENST00000683243.1:c.*575-211del	ENSP00000507042.1:n.*575-211del
ENST00000683463.1:c.*700del	ENSP00000507986.1:n.*700del
ENST00000683548.1:n.1669del
ENST00000683579.1:c.*1320-211del	ENSP00000506867.1:n.*1320-211del
ENST00000683587.1:n.1742del
ENST00000683681.1:c.*15del	ENSP00000508110.1:n.*15del
ENST00000683735.1:c.*1609del	ENSP00000508336.1:n.*1609del
ENST00000683853.1:c.*227-211del	ENSP00000506834.1:n.*227-211del
ENST00000683860.1:c.*331del	ENSP00000507179.1:n.*331del
ENST00000683884.1:c.*538del	ENSP00000507004.1:n.*538del
ENST00000684041.1:c.*470del	ENSP00000508382.1:n.*470del
ENST00000684125.1:c.*82-211del	ENSP00000507320.1:n.*82-211del
ENST00000684203.1:n.3660del
ENST00000684231.1:c.*832-211del	ENSP00000507748.1:n.*832-211del
ENST00000684263.1:c.*835del	ENSP00000508369.1:n.*835del
ENST00000684305.1:c.1870-211del	ENSP00000506819.1:n.1870-211del
ENST00000684415.1:c.*762del	ENSP00000507227.1:n.*762del
ENST00000684520.1:c.*470del	ENSP00000506826.1:n.*470del
ENST00000684602.1:c.*1088-211del	ENSP00000507996.1:n.*1088-211del
ENST00000684667.1:c.1753-211del	ENSP00000507003.1:n.1753-211del
ENST00000268097.10:c.1422-211del MANE Select	ENSP00000268097.6:n.1422-211del
ENST00000268097.9:c.1422-211del	ENSP00000268097.5:n.1422-211del
ENST00000379915.4:c.504-211del	ENSP00000478716.1:n.504-211del
ENST00000564677.5:n.129del
ENST00000565873.1:n.122del
ENST00000566304.5:c.1455-211del	ENSP00000455114.1:n.1455-211del
ENST00000567027.5:c.1037-211del
ENST00000567159.5:c.1422-211del	ENSP00000456489.1:n.1422-211del
ENST00000567411.5:c.*943-211del	ENSP00000455545.1:n.*943-211del
ENST00000568777.5:n.6642-211del
ENST00000569116.1:n.44del
NM_000520.4:c.1422-211del	NP_000511.2:n.1422-211del
NM_000520.5:c.1422-211del	NP_000511.2:n.1422-211del
NM_001318825.1:c.1455-211del	NP_001305754.1:n.1455-211del
NR_134869.1:n.1666-211del
NM_000520.6:c.1422-211del MANE Select	NP_000511.2:n.1422-211del
NM_001318825.2:c.1455-211del	NP_001305754.1:n.1455-211del
NR_134869.2:n.1207-211del
NR_134869.3:n.1207-211del