Canonical Allele Identifier: CA1555776102

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74685337_74685355delinsTGTTGGCGCTGCTGACTCA , CM000667.2:g.74685337_74685355delinsTGTTGGCGCTGCTGACTCA	GRCh38
NC_000005.9:g.73981162_73981180delinsTGTTGGCGCTGCTGACTCA , CM000667.1:g.73981162_73981180delinsTGTTGGCGCTGCTGACTCA	GRCh37
NC_000005.8:g.74016918_74016936delinsTGTTGGCGCTGCTGACTCA	NCBI36
NG_009770.1:g.5194_5212delinsTGTTGGCGCTGCTGACTCA
NG_009770.2:g.50315_50333delinsTGTTGGCGCTGCTGACTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.77_95delinsTGTTGGCGCTGCTGACTCA MANE Select	ENSP00000261416.7:p.Met26=
ENST00000261416.11:c.77_95delinsTGTTGGCGCTGCTGACTCA	ENSP00000261416.7:p.Met26=
ENST00000511181.5:c.-376-3991_-376-3973delinsTGTTGGCGCTGCTGACTCA	ENSP00000426285.1:n.-376-3991_-376-3973delinsTGTTGGCGCTGCTGAC...
ENST00000513079.5:n.142_160delinsTGTTGGCGCTGCTGACTCA
ENST00000515528.1:n.132_150delinsTGTTGGCGCTGCTGACTCA
NM_000521.3:c.77_95delinsTGTTGGCGCTGCTGACTCA	NP_000512.1:p.Met26=
NM_001292004.1:c.-376-3991_-376-3973delinsTGTTGGCGCTGCTGACTCA	NP_001278933.1:n.-376-3991_-376-3973delinsTGTTGGCGCTGCTGACTCA...
NM_000521.4:c.77_95delinsTGTTGGCGCTGCTGACTCA MANE Select	NP_000512.2:p.Met26=
NM_001292004.2:c.-376-3991_-376-3973delinsTGTTGGCGCTGCTGACTCA	NP_001278933.1:n.-376-3991_-376-3973delinsTGTTGGCGCTGCTGACTCA...