Canonical Allele Identifier: CA120900501

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689052_74689053insA , CM000667.2:g.74689052_74689053insA	GRCh38
NC_000005.9:g.73984877_73984878insA , CM000667.1:g.73984877_73984878insA	GRCh37
NC_000005.8:g.74020633_74020634insA	NCBI36
NG_009770.1:g.8909_8910insA
NG_009770.2:g.54030_54031insA

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.300-276_300-275insA MANE Select	NP_000512.2:n.300-276_300-275insA
ENST00000261416.12:c.300-276_300-275insA MANE Select	ENSP00000261416.7:n.300-276_300-275insA
NM_000521.3:c.300-276_300-275insA	NP_000512.1:n.300-276_300-275insA
NM_001292004.1:c.-376-276_-376-275insA	NP_001278933.1:n.-376-276_-376-275insA
NM_001292004.2:c.-376-276_-376-275insA	NP_001278933.1:n.-376-276_-376-275insA
ENST00000261416.11:c.300-276_300-275insA	ENSP00000261416.7:n.300-276_300-275insA
ENST00000511181.5:c.-376-276_-376-275insA	ENSP00000426285.1:n.-376-276_-376-275insA
ENST00000513079.5:n.365-276_365-275insA
ENST00000515528.1:n.355-276_355-275insA