Canonical Allele Identifier: CA2186742385

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343546_72343547delinsTG , CM000677.2:g.72343546_72343547delinsTG	GRCh38
NC_000015.9:g.72635887_72635888delinsTG , CM000677.1:g.72635887_72635888delinsTG	GRCh37
NC_000015.8:g.70422941_70422942delinsTG	NCBI36
NG_009017.1:g.37633_37634delinsCA
NG_009017.2:g.37633_37634delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2347_2348delinsCA
ENST00000682235.1:n.2143_2144delinsCA
ENST00000682461.1:c.2226_2227delinsCA	ENSP00000507308.1:n.2226_2227delinsCA
ENST00000682653.1:n.4429_4430delinsCA
ENST00000682721.1:c.*1923_*1924delinsCA	ENSP00000507535.1:n.*1923_*1924delinsCA
ENST00000682843.1:c.*1761_*1762delinsCA	ENSP00000508173.1:n.*1761_*1762delinsCA
ENST00000683133.1:c.2304_2305delinsCA	ENSP00000508108.1:n.2304_2305delinsCA
ENST00000683243.1:c.*1273_*1274delinsCA	ENSP00000507042.1:n.*1273_*1274delinsCA
ENST00000683463.1:c.*1609_*1610delinsCA	ENSP00000507986.1:n.*1609_*1610delinsCA
ENST00000683548.1:n.2578_2579delinsCA
ENST00000683579.1:c.*2018_*2019delinsCA	ENSP00000506867.1:n.*2018_*2019delinsCA
ENST00000683587.1:n.2651_2652delinsCA
ENST00000683735.1:c.*2518_*2519delinsCA	ENSP00000508336.1:n.*2518_*2519delinsCA
ENST00000683853.1:c.*2230_*2231delinsCA	ENSP00000506834.1:n.*2230_*2231delinsCA
ENST00000684125.1:c.*780_*781delinsCA	ENSP00000507320.1:n.*780_*781delinsCA
ENST00000684203.1:n.4569_4570delinsCA
ENST00000684231.1:c.*1530_*1531delinsCA	ENSP00000507748.1:n.*1530_*1531delinsCA
ENST00000684263.1:c.*1744_*1745delinsCA	ENSP00000508369.1:n.*1744_*1745delinsCA
ENST00000684305.1:c.2568_2569delinsCA	ENSP00000506819.1:n.2568_2569delinsCA
ENST00000684602.1:c.*1786_*1787delinsCA	ENSP00000507996.1:n.*1786_*1787delinsCA
ENST00000684667.1:c.2451_2452delinsCA	ENSP00000507003.1:n.2451_2452delinsCA
ENST00000268097.10:c.*530_*531delinsCA MANE Select	ENSP00000268097.6:n.*530_*531delinsCA
ENST00000268097.9:c.*530_*531delinsCA	ENSP00000268097.5:n.*530_*531delinsCA
ENST00000379915.4:c.608+1899_608+1900delinsCA	ENSP00000478716.1:n.608+1899_608+1900deli...
NM_000520.4:c.*530_*531delinsCA	NP_000511.2:n.*530_*531delinsCA
NM_000520.5:c.*530_*531delinsCA	NP_000511.2:n.*530_*531delinsCA
NM_001318825.1:c.*530_*531delinsCA	NP_001305754.1:n.*530_*531delinsCA
NM_000520.6:c.*530_*531delinsCA MANE Select	NP_000511.2:n.*530_*531delinsCA
NM_001318825.2:c.*530_*531delinsCA	NP_001305754.1:n.*530_*531delinsCA