Canonical Allele Identifier: CA2216836153
Gene: STX1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993227_30993230delinsTCAA , CM000678.2:g.30993227_30993230delinsTCAA GRCh38
NC_000016.9:g.31004548_31004551delinsTCAA , CM000678.1:g.31004548_31004551delinsTCAA GRCh37
NC_000016.8:g.30912049_30912052delinsTCAA NCBI36
NG_041829.1:g.22279_22282delinsTTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.686_689delinsTTGA MANE Select ENSP00000215095.5:p.Ile229=
ENST00000565419.2:c.686_689delinsTTGA ENSP00000455899.1:p.Ile229=
ENST00000215095.9:c.686_689delinsTTGA ENSP00000215095.5:p.Ile229=
ENST00000565419.1:c.686_689delinsTTGA ENSP00000455899.1:p.Ile229=
ENST00000569638.5:c.434_437delinsTTGA ENSP00000457067.1:p.Ile145=
NM_052874.4:c.686_689delinsTTGA NP_443106.1:p.Ile229=
XM_017022893.1:c.668_671delinsTTGA XP_016878382.1:p.Ile223=
NM_052874.5:c.686_689delinsTTGA MANE Select NP_443106.1:p.Ile229=