Canonical Allele Identifier: CA658823832

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72344091del , CM000677.2:g.72344091del	GRCh38
NC_000015.9:g.72636432del , CM000677.1:g.72636432del	GRCh37
NC_000015.8:g.70423486del	NCBI36
NG_009017.1:g.37091del
NG_009017.2:g.37091del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.1805del
ENST00000682235.1:n.1601del
ENST00000682461.1:c.1684del	ENSP00000507308.1:n.1684del
ENST00000682653.1:n.3887del
ENST00000682721.1:c.*1381del	ENSP00000507535.1:n.*1381del
ENST00000682843.1:c.*1219del	ENSP00000508173.1:n.*1219del
ENST00000683133.1:c.1762del	ENSP00000508108.1:n.1762del
ENST00000683243.1:c.*731del	ENSP00000507042.1:n.*731del
ENST00000683463.1:c.*1067del	ENSP00000507986.1:n.*1067del
ENST00000683548.1:n.2036del
ENST00000683579.1:c.*1476del	ENSP00000506867.1:n.*1476del
ENST00000683587.1:n.2109del
ENST00000683681.1:c.*256del	ENSP00000508110.1:n.*256del
ENST00000683735.1:c.*1976del	ENSP00000508336.1:n.*1976del
ENST00000683853.1:c.*1688del	ENSP00000506834.1:n.*1688del
ENST00000683860.1:c.*698del	ENSP00000507179.1:n.*698del
ENST00000684125.1:c.*238del	ENSP00000507320.1:n.*238del
ENST00000684203.1:n.4027del
ENST00000684231.1:c.*988del	ENSP00000507748.1:n.*988del
ENST00000684263.1:c.*1202del	ENSP00000508369.1:n.*1202del
ENST00000684305.1:c.2026del	ENSP00000506819.1:n.2026del
ENST00000684602.1:c.*1244del	ENSP00000507996.1:n.*1244del
ENST00000684667.1:c.1909del	ENSP00000507003.1:n.1909del
ENST00000268097.10:c.1578del MANE Select	ENSP00000268097.6:p.Phe526LeufsTer19
ENST00000268097.9:c.1578del	ENSP00000268097.5:p.Phe526LeufsTer19
ENST00000379915.4:c.608+1357del	ENSP00000478716.1:n.608+1357del
ENST00000564677.5:n.370del
ENST00000565873.1:n.489del
ENST00000566304.5:c.1611del	ENSP00000455114.1:p.Phe537LeufsTer19
ENST00000567411.5:c.*1099del	ENSP00000455545.1:n.*1099del
NM_000520.4:c.1578del	NP_000511.2:p.Phe526LeufsTer19
NM_000520.5:c.1578del	NP_000511.2:p.Phe526LeufsTer19
NM_001318825.1:c.1611del	NP_001305754.1:p.Phe537LeufsTer19
NM_000520.6:c.1578del MANE Select	NP_000511.2:p.Phe526LeufsTer19
NM_001318825.2:c.1611del	NP_001305754.1:p.Phe537LeufsTer19