Canonical Allele Identifier: CA272608988

Gene: HEXA

Linked Data

• dbSNP Id: rs113665670
• gnomAD v3: 15-72345374-CCTCT-C
• gnomAD v4: 15-72345374-CCTCT-C
• MyVariant Identifiers: chr15:g.72637716_72637719del (hg19) ; chr15:g.72345375_72345378del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345379_72345382del , CM000677.2:g.72345379_72345382del	GRCh38
NC_000015.9:g.72637720_72637723del , CM000677.1:g.72637720_72637723del	GRCh37
NC_000015.8:g.70424774_70424777del	NCBI36
NG_009017.1:g.35802_35805del
NG_009017.2:g.35802_35805del

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*254_*257del	ENSP00000457521.2:n.*254_*257del
ENST00000682061.1:c.*1940_*1943del	ENSP00000508316.1:n.*1940_*1943del
ENST00000682064.1:n.1753+68_1753+71del
ENST00000682177.1:c.1637_1640del	ENSP00000507409.1:n.1637_1640del
ENST00000682235.1:n.1549+68_1549+71del
ENST00000682461.1:c.1632+68_1632+71del	ENSP00000507308.1:n.1632+68_1632+71del
ENST00000682653.1:n.2598_2601del
ENST00000682657.1:c.*1431_*1434del	ENSP00000507753.1:n.*1431_*1434del
ENST00000682721.1:c.*1329+68_*1329+71del	ENSP00000507535.1:n.*1329+68_*1329+71del
ENST00000682843.1:c.*1167+68_*1167+71del	ENSP00000508173.1:n.*1167+68_*1167+71del
ENST00000683003.1:c.*1431_*1434del	ENSP00000507576.1:n.*1431_*1434del
ENST00000683133.1:c.1710+68_1710+71del	ENSP00000508108.1:n.1710+68_1710+71del
ENST00000683243.1:c.*679+68_*679+71del	ENSP00000507042.1:n.*679+68_*679+71del
ENST00000683463.1:c.*1015+68_*1015+71del	ENSP00000507986.1:n.*1015+68_*1015+71del
ENST00000683548.1:n.1984+68_1984+71del
ENST00000683579.1:c.*1424+68_*1424+71del	ENSP00000506867.1:n.*1424+68_*1424+71del
ENST00000683587.1:n.2057+68_2057+71del
ENST00000683681.1:c.*204+68_*204+71del	ENSP00000508110.1:n.*204+68_*204+71del
ENST00000683735.1:c.*1924+68_*1924+71del	ENSP00000508336.1:n.*1924+68_*1924+71del
ENST00000683853.1:c.*399_*402del	ENSP00000506834.1:n.*399_*402del
ENST00000683860.1:c.*646+68_*646+71del	ENSP00000507179.1:n.*646+68_*646+71del
ENST00000683884.1:c.*921_*924del	ENSP00000507004.1:n.*921_*924del
ENST00000684125.1:c.*186+68_*186+71del	ENSP00000507320.1:n.*186+68_*186+71del
ENST00000684203.1:n.3975+68_3975+71del
ENST00000684231.1:c.*936+68_*936+71del	ENSP00000507748.1:n.*936+68_*936+71del
ENST00000684263.1:c.*1150+68_*1150+71del	ENSP00000508369.1:n.*1150+68_*1150+71del
ENST00000684305.1:c.1974+68_1974+71del	ENSP00000506819.1:n.1974+68_1974+71del
ENST00000684415.1:c.*1145_*1148del	ENSP00000507227.1:n.*1145_*1148del
ENST00000684520.1:c.*853_*856del	ENSP00000506826.1:n.*853_*856del
ENST00000684602.1:c.*1192+68_*1192+71del	ENSP00000507996.1:n.*1192+68_*1192+71del
ENST00000684667.1:c.1857+68_1857+71del	ENSP00000507003.1:n.1857+68_1857+71del
ENST00000268097.10:c.1526+68_1526+71del MANE Select	ENSP00000268097.6:n.1526+68_1526+71del
ENST00000268097.9:c.1526+68_1526+71del	ENSP00000268097.5:n.1526+68_1526+71del
ENST00000379915.4:c.608+68_608+71del	ENSP00000478716.1:n.608+68_608+71del
ENST00000564677.5:n.318+68_318+71del
ENST00000565873.1:n.437+68_437+71del
ENST00000566304.5:c.1559+68_1559+71del	ENSP00000455114.1:n.1559+68_1559+71del
ENST00000567027.5:c.1209_1212del
ENST00000567411.5:c.*1047+68_*1047+71del	ENSP00000455545.1:n.*1047+68_*1047+71del
ENST00000568777.5:n.6814_6817del
ENST00000569116.1:n.301_304del
NM_000520.4:c.1526+68_1526+71del	NP_000511.2:n.1526+68_1526+71del
NM_000520.5:c.1526+68_1526+71del	NP_000511.2:n.1526+68_1526+71del
NM_001318825.1:c.1559+68_1559+71del	NP_001305754.1:n.1559+68_1559+71del
NR_134869.1:n.1838_1841del
NM_000520.6:c.1526+68_1526+71del MANE Select	NP_000511.2:n.1526+68_1526+71del
NM_001318825.2:c.1559+68_1559+71del	NP_001305754.1:n.1559+68_1559+71del
NR_134869.2:n.1379_1382del
NR_134869.3:n.1379_1382del