Canonical Allele Identifier: CA2629340415

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345753-G-GATTGCTACCCACATT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345753_72345754insATTGCTACCCACATT , CM000677.2:g.72345753_72345754insATTGCTACCCACATT	GRCh38
NC_000015.9:g.72638094_72638095insATTGCTACCCACATT , CM000677.1:g.72638094_72638095insATTGCTACCCACATT	GRCh37
NC_000015.8:g.70425148_70425149insATTGCTACCCACATT	NCBI36
NG_009017.1:g.35426_35427insAATGTGGGTAGCAAT
NG_009017.2:g.35426_35427insAATGTGGGTAGCAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-204_*82-203insAATGTGGGTAGCAAT	ENSP00000457521.2:n.*82-204_*82-203insAATGTGGGTAGCAAT
ENST00000682061.1:c.*1564_*1565insAATGTGGGTAGCAAT	ENSP00000508316.1:n.*1564_*1565insAATGTGGGTAGCAAT
ENST00000682064.1:n.1445_1446insAATGTGGGTAGCAAT
ENST00000682177.1:c.1465-204_1465-203insAATGTGGGTAGCAAT	ENSP00000507409.1:n.1465-204_1465-203insAATGTGGGTAGCAAT
ENST00000682235.1:n.1241_1242insAATGTGGGTAGCAAT
ENST00000682461.1:c.1528-204_1528-203insAATGTGGGTAGCAAT	ENSP00000507308.1:n.1528-204_1528-203insAATGTGGGTAGCAAT
ENST00000682653.1:n.2222_2223insAATGTGGGTAGCAAT
ENST00000682657.1:c.*1055_*1056insAATGTGGGTAGCAAT	ENSP00000507753.1:n.*1055_*1056insAATGTGGGTAGCAAT
ENST00000682721.1:c.*1225-204_*1225-203insAATGTGGGTAGCAAT	ENSP00000507535.1:n.*1225-204_*1225-203insAATGTGGGTAGCAAT
ENST00000682843.1:c.*1063-204_*1063-203insAATGTGGGTAGCAAT	ENSP00000508173.1:n.*1063-204_*1063-203insAATGTGGGTAGCAAT
ENST00000683003.1:c.*1055_*1056insAATGTGGGTAGCAAT	ENSP00000507576.1:n.*1055_*1056insAATGTGGGTAGCAAT
ENST00000683133.1:c.1606-204_1606-203insAATGTGGGTAGCAAT	ENSP00000508108.1:n.1606-204_1606-203insAATGTGGGTAGCAAT
ENST00000683243.1:c.*575-204_*575-203insAATGTGGGTAGCAAT	ENSP00000507042.1:n.*575-204_*575-203insAATGTGGGTAGCAAT
ENST00000683463.1:c.*707_*708insAATGTGGGTAGCAAT	ENSP00000507986.1:n.*707_*708insAATGTGGGTAGCAAT
ENST00000683548.1:n.1676_1677insAATGTGGGTAGCAAT
ENST00000683579.1:c.*1320-204_*1320-203insAATGTGGGTAGCAAT	ENSP00000506867.1:n.*1320-204_*1320-203insAATGTGGGTAGCAAT
ENST00000683587.1:n.1749_1750insAATGTGGGTAGCAAT
ENST00000683681.1:c.*22_*23insAATGTGGGTAGCAAT	ENSP00000508110.1:n.*22_*23insAATGTGGGTAGCAAT
ENST00000683735.1:c.*1616_*1617insAATGTGGGTAGCAAT	ENSP00000508336.1:n.*1616_*1617insAATGTGGGTAGCAAT
ENST00000683853.1:c.*227-204_*227-203insAATGTGGGTAGCAAT	ENSP00000506834.1:n.*227-204_*227-203insAATGTGGGTAGCAAT
ENST00000683860.1:c.*338_*339insAATGTGGGTAGCAAT	ENSP00000507179.1:n.*338_*339insAATGTGGGTAGCAAT
ENST00000683884.1:c.*545_*546insAATGTGGGTAGCAAT	ENSP00000507004.1:n.*545_*546insAATGTGGGTAGCAAT
ENST00000684041.1:c.*477_*478insAATGTGGGTAGCAAT	ENSP00000508382.1:n.*477_*478insAATGTGGGTAGCAAT
ENST00000684125.1:c.*82-204_*82-203insAATGTGGGTAGCAAT	ENSP00000507320.1:n.*82-204_*82-203insAATGTGGGTAGCAAT
ENST00000684203.1:n.3667_3668insAATGTGGGTAGCAAT
ENST00000684231.1:c.*832-204_*832-203insAATGTGGGTAGCAAT	ENSP00000507748.1:n.*832-204_*832-203insAATGTGGGTAGCAAT
ENST00000684263.1:c.*842_*843insAATGTGGGTAGCAAT	ENSP00000508369.1:n.*842_*843insAATGTGGGTAGCAAT
ENST00000684305.1:c.1870-204_1870-203insAATGTGGGTAGCAAT	ENSP00000506819.1:n.1870-204_1870-203insAATGTGGGTAGCAAT
ENST00000684415.1:c.*769_*770insAATGTGGGTAGCAAT	ENSP00000507227.1:n.*769_*770insAATGTGGGTAGCAAT
ENST00000684520.1:c.*477_*478insAATGTGGGTAGCAAT	ENSP00000506826.1:n.*477_*478insAATGTGGGTAGCAAT
ENST00000684602.1:c.*1088-204_*1088-203insAATGTGGGTAGCAAT	ENSP00000507996.1:n.*1088-204_*1088-203insAATGTGGGTAGCAAT
ENST00000684667.1:c.1753-204_1753-203insAATGTGGGTAGCAAT	ENSP00000507003.1:n.1753-204_1753-203insAATGTGGGTAGCAAT
ENST00000268097.10:c.1422-204_1422-203insAATGTGGGTAGCAAT MANE Select	ENSP00000268097.6:n.1422-204_1422-203insAATGTGGGTAGCAAT
ENST00000268097.9:c.1422-204_1422-203insAATGTGGGTAGCAAT	ENSP00000268097.5:n.1422-204_1422-203insAATGTGGGTAGCAAT
ENST00000379915.4:c.504-204_504-203insAATGTGGGTAGCAAT	ENSP00000478716.1:n.504-204_504-203insAATGTGGGTAGCAAT
ENST00000564677.5:n.136_137insAATGTGGGTAGCAAT
ENST00000565873.1:n.129_130insAATGTGGGTAGCAAT
ENST00000566304.5:c.1455-204_1455-203insAATGTGGGTAGCAAT	ENSP00000455114.1:n.1455-204_1455-203insAATGTGGGTAGCAAT
ENST00000567027.5:c.1037-204_1037-203insAATGTGGGTAGCAAT
ENST00000567159.5:c.1422-204_1422-203insAATGTGGGTAGCAAT	ENSP00000456489.1:n.1422-204_1422-203insAATGTGGGTAGCAAT
ENST00000567411.5:c.*943-204_*943-203insAATGTGGGTAGCAAT	ENSP00000455545.1:n.*943-204_*943-203insAATGTGGGTAGCAAT
ENST00000568777.5:n.6642-204_6642-203insAATGTGGGTAGCAAT
ENST00000569116.1:n.51_52insAATGTGGGTAGCAAT
NM_000520.4:c.1422-204_1422-203insAATGTGGGTAGCAAT	NP_000511.2:n.1422-204_1422-203insAATGTGGGTAGCAAT
NM_000520.5:c.1422-204_1422-203insAATGTGGGTAGCAAT	NP_000511.2:n.1422-204_1422-203insAATGTGGGTAGCAAT
NM_001318825.1:c.1455-204_1455-203insAATGTGGGTAGCAAT	NP_001305754.1:n.1455-204_1455-203insAATGTGGGTAGCAAT
NR_134869.1:n.1666-204_1666-203insAATGTGGGTAGCAAT
NM_000520.6:c.1422-204_1422-203insAATGTGGGTAGCAAT MANE Select	NP_000511.2:n.1422-204_1422-203insAATGTGGGTAGCAAT
NM_001318825.2:c.1455-204_1455-203insAATGTGGGTAGCAAT	NP_001305754.1:n.1455-204_1455-203insAATGTGGGTAGCAAT
NR_134869.2:n.1207-204_1207-203insAATGTGGGTAGCAAT
NR_134869.3:n.1207-204_1207-203insAATGTGGGTAGCAAT