Canonical Allele Identifier: CA1555779308

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689122_74689123delinsAG , CM000667.2:g.74689122_74689123delinsAG	GRCh38
NC_000005.9:g.73984947_73984948delinsAG , CM000667.1:g.73984947_73984948delinsAG	GRCh37
NC_000005.8:g.74020703_74020704delinsAG	NCBI36
NG_009770.1:g.8979_8980delinsAG
NG_009770.2:g.54100_54101delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.300-206_300-205delinsAG MANE Select	ENSP00000261416.7:n.300-206_300-205delinsAG
ENST00000261416.11:c.300-206_300-205delinsAG	ENSP00000261416.7:n.300-206_300-205delinsAG
ENST00000511181.5:c.-376-206_-376-205delinsAG	ENSP00000426285.1:n.-376-206_-376-205delinsAG
ENST00000513079.5:n.365-206_365-205delinsAG
ENST00000515528.1:n.355-206_355-205delinsAG
NM_000521.3:c.300-206_300-205delinsAG	NP_000512.1:n.300-206_300-205delinsAG
NM_001292004.1:c.-376-206_-376-205delinsAG	NP_001278933.1:n.-376-206_-376-205delinsAG
NM_000521.4:c.300-206_300-205delinsAG MANE Select	NP_000512.2:n.300-206_300-205delinsAG
NM_001292004.2:c.-376-206_-376-205delinsAG	NP_001278933.1:n.-376-206_-376-205delinsAG