Canonical Allele Identifier: CA1555779456

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689284_74689295delinsGCTAAAATCCTT , CM000667.2:g.74689284_74689295delinsGCTAAAATCCTT	GRCh38
NC_000005.9:g.73985109_73985120delinsGCTAAAATCCTT , CM000667.1:g.73985109_73985120delinsGCTAAAATCCTT	GRCh37
NC_000005.8:g.74020865_74020876delinsGCTAAAATCCTT	NCBI36
NG_009770.1:g.9141_9152delinsGCTAAAATCCTT
NG_009770.2:g.54262_54273delinsGCTAAAATCCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.300-44_300-33delinsGCTAAAATCCTT MANE Select	ENSP00000261416.7:n.300-44_300-33delinsGC...
ENST00000261416.11:c.300-44_300-33delinsGCTAAAATCCTT	ENSP00000261416.7:n.300-44_300-33delinsGC...
ENST00000511181.5:c.-376-44_-376-33delinsGCTAAAATCCTT	ENSP00000426285.1:n.-376-44_-376-33delins...
ENST00000513079.5:n.365-44_365-33delinsGCTAAAATCCTT
ENST00000515528.1:n.355-44_355-33delinsGCTAAAATCCTT
NM_000521.3:c.300-44_300-33delinsGCTAAAATCCTT	NP_000512.1:n.300-44_300-33delinsGCTAAAAT...
NM_001292004.1:c.-376-44_-376-33delinsGCTAAAATCCTT	NP_001278933.1:n.-376-44_-376-33delinsGCT...
NM_000521.4:c.300-44_300-33delinsGCTAAAATCCTT MANE Select	NP_000512.2:n.300-44_300-33delinsGCTAAAAT...
NM_001292004.2:c.-376-44_-376-33delinsGCTAAAATCCTT	NP_001278933.1:n.-376-44_-376-33delinsGCT...