Canonical Allele Identifier: CA2629340232

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345187-CTTAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345191_72345195del , CM000677.2:g.72345191_72345195del	GRCh38
NC_000015.9:g.72637532_72637536del , CM000677.1:g.72637532_72637536del	GRCh37
NC_000015.8:g.70424586_70424590del	NCBI36
NG_009017.1:g.35988_35992del
NG_009017.2:g.35988_35992del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.1753+254_1753+258del
ENST00000682235.1:n.1549+254_1549+258del
ENST00000682461.1:c.1632+254_1632+258del	ENSP00000507308.1:n.1632+254_1632+258del
ENST00000682653.1:n.2784_2788del
ENST00000682721.1:c.*1329+254_*1329+258del	ENSP00000507535.1:n.*1329+254_*1329+258del
ENST00000682843.1:c.*1167+254_*1167+258del	ENSP00000508173.1:n.*1167+254_*1167+258del
ENST00000683133.1:c.1710+254_1710+258del	ENSP00000508108.1:n.1710+254_1710+258del
ENST00000683243.1:c.*679+254_*679+258del	ENSP00000507042.1:n.*679+254_*679+258del
ENST00000683463.1:c.*1015+254_*1015+258del	ENSP00000507986.1:n.*1015+254_*1015+258del
ENST00000683548.1:n.1984+254_1984+258del
ENST00000683579.1:c.*1424+254_*1424+258del	ENSP00000506867.1:n.*1424+254_*1424+258del
ENST00000683587.1:n.2057+254_2057+258del
ENST00000683681.1:c.*204+254_*204+258del	ENSP00000508110.1:n.*204+254_*204+258del
ENST00000683735.1:c.*1924+254_*1924+258del	ENSP00000508336.1:n.*1924+254_*1924+258del
ENST00000683853.1:c.*585_*589del	ENSP00000506834.1:n.*585_*589del
ENST00000683860.1:c.*646+254_*646+258del	ENSP00000507179.1:n.*646+254_*646+258del
ENST00000684125.1:c.*186+254_*186+258del	ENSP00000507320.1:n.*186+254_*186+258del
ENST00000684203.1:n.3975+254_3975+258del
ENST00000684231.1:c.*936+254_*936+258del	ENSP00000507748.1:n.*936+254_*936+258del
ENST00000684263.1:c.*1150+254_*1150+258del	ENSP00000508369.1:n.*1150+254_*1150+258del
ENST00000684305.1:c.1974+254_1974+258del	ENSP00000506819.1:n.1974+254_1974+258del
ENST00000684602.1:c.*1192+254_*1192+258del	ENSP00000507996.1:n.*1192+254_*1192+258del
ENST00000684667.1:c.1857+254_1857+258del	ENSP00000507003.1:n.1857+254_1857+258del
ENST00000268097.10:c.1526+254_1526+258del MANE Select	ENSP00000268097.6:n.1526+254_1526+258del
ENST00000268097.9:c.1526+254_1526+258del	ENSP00000268097.5:n.1526+254_1526+258del
ENST00000379915.4:c.608+254_608+258del	ENSP00000478716.1:n.608+254_608+258del
ENST00000564677.5:n.318+254_318+258del
ENST00000565873.1:n.437+254_437+258del
ENST00000566304.5:c.1559+254_1559+258del	ENSP00000455114.1:n.1559+254_1559+258del
ENST00000567411.5:c.*1047+254_*1047+258del	ENSP00000455545.1:n.*1047+254_*1047+258del
NM_000520.4:c.1526+254_1526+258del	NP_000511.2:n.1526+254_1526+258del
NM_000520.5:c.1526+254_1526+258del	NP_000511.2:n.1526+254_1526+258del
NM_001318825.1:c.1559+254_1559+258del	NP_001305754.1:n.1559+254_1559+258del
NM_000520.6:c.1526+254_1526+258del MANE Select	NP_000511.2:n.1526+254_1526+258del
NM_001318825.2:c.1559+254_1559+258del	NP_001305754.1:n.1559+254_1559+258del