Canonical Allele Identifier: CA915949242
Gene: STX1B HGNC NCBI

Linked Data

ClinVar Variation Id: 803252
ClinVar RCV Id: RCV000989596
dbSNP Id: rs1596714579
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993228_30993230del , CM000678.2:g.30993228_30993230del GRCh38
NC_000016.9:g.31004549_31004551del , CM000678.1:g.31004549_31004551del GRCh37
NC_000016.8:g.30912050_30912052del NCBI36
NG_041829.1:g.22279_22281del

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.686_688del MANE Select ENSP00000215095.5:p.Ile229_Asp230delinsAsn
ENST00000565419.2:c.686_688del ENSP00000455899.1:p.Ile229_Asp230delinsAsn
ENST00000215095.9:c.686_688del ENSP00000215095.5:p.Ile229_Asp230delinsAsn
ENST00000565419.1:c.686_688del ENSP00000455899.1:p.Ile229_Asp230delinsAsn
ENST00000569638.5:c.434_436del ENSP00000457067.1:p.Ile145_Asp146delinsAsn
NM_052874.4:c.686_688del NP_443106.1:p.Ile229_Asp230delinsAsn
XM_017022893.1:c.668_670del XP_016878382.1:p.Ile223_Asp224delinsAsn
NM_052874.5:c.686_688del MANE Select NP_443106.1:p.Ile229_Asp230delinsAsn
Search 100 bp 5'
Search 100 bp 3'