Canonical Allele Identifier: CA2580091501
Community Standard Title: NM_052874.5(STX1B):c.345dup (p.Lys116GlnfsTer19)
Gene: STX1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30997511dup , CM000678.2:g.30997511dup GRCh38
NC_000016.9:g.31008832dup , CM000678.1:g.31008832dup GRCh37
NC_000016.8:g.30916333dup NCBI36
NG_041829.1:g.17998dup

Transcript Alleles

HGVS Amino-acid Change
NM_052874.5:c.345dup MANE Select NP_443106.1:p.Lys116GlnfsTer19
ENST00000215095.11:c.345dup MANE Select ENSP00000215095.5:p.Lys116GlnfsTer19
NM_052874.4:c.345dup NP_443106.1:p.Lys116GlnfsTer19
ENST00000215095.9:c.345dup ENSP00000215095.5:p.Lys116GlnfsTer19
ENST00000565419.1:c.345dup ENSP00000455899.1:p.Lys116GlnfsTer19
ENST00000565419.2:c.345dup ENSP00000455899.1:p.Lys116GlnfsTer19
ENST00000569638.5:c.93dup ENSP00000457067.1:p.Lys32GlnfsTer19
XM_017022893.1:c.327dup XP_016878382.1:p.Lys110GlnfsTer19