Canonical Allele Identifier: CA1555779433

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689253_74689268delinsATGTTACTAGCACATC , CM000667.2:g.74689253_74689268delinsATGTTACTAGCACATC	GRCh38
NC_000005.9:g.73985078_73985093delinsATGTTACTAGCACATC , CM000667.1:g.73985078_73985093delinsATGTTACTAGCACATC	GRCh37
NC_000005.8:g.74020834_74020849delinsATGTTACTAGCACATC	NCBI36
NG_009770.1:g.9110_9125delinsATGTTACTAGCACATC
NG_009770.2:g.54231_54246delinsATGTTACTAGCACATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.300-75_300-60delinsATGTTACTAGCACATC MANE Select	ENSP00000261416.7:n.300-75_300-60delinsATGTTACTAGCACATC
ENST00000261416.11:c.300-75_300-60delinsATGTTACTAGCACATC	ENSP00000261416.7:n.300-75_300-60delinsATGTTACTAGCACATC
ENST00000511181.5:c.-376-75_-376-60delinsATGTTACTAGCACATC	ENSP00000426285.1:n.-376-75_-376-60delinsATGTTACTAGCACATC
ENST00000513079.5:n.365-75_365-60delinsATGTTACTAGCACATC
ENST00000515528.1:n.355-75_355-60delinsATGTTACTAGCACATC
NM_000521.3:c.300-75_300-60delinsATGTTACTAGCACATC	NP_000512.1:n.300-75_300-60delinsATGTTACTAGCACATC
NM_001292004.1:c.-376-75_-376-60delinsATGTTACTAGCACATC	NP_001278933.1:n.-376-75_-376-60delinsATGTTACTAGCACATC
NM_000521.4:c.300-75_300-60delinsATGTTACTAGCACATC MANE Select	NP_000512.2:n.300-75_300-60delinsATGTTACTAGCACATC
NM_001292004.2:c.-376-75_-376-60delinsATGTTACTAGCACATC	NP_001278933.1:n.-376-75_-376-60delinsATGTTACTAGCACATC