Canonical Allele Identifier: CA2171396496
Gene: THBS1 HGNC NCBI

Linked Data

dbSNP Id: rs1890092985

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39581140_39581141dup , CM000677.2:g.39581140_39581141dup GRCh38
NC_000015.9:g.39873341_39873342dup , CM000677.1:g.39873341_39873342dup GRCh37
NC_000015.8:g.37660633_37660634dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260356.6:c.-118_-117dup MANE Select ENSP00000260356.5:n.-118_-117dup
ENST00000260356.5:c.-118_-117dup ENSP00000260356.5:n.-118_-117dup
ENST00000397591.2:c.-239_-238dup ENSP00000380720.2:n.-239_-238dup
NM_003246.2:c.-118_-117dup NP_003237.2:n.-118_-117dup
NM_003246.3:c.-118_-117dup NP_003237.2:n.-118_-117dup
XM_011521970.1:c.-239_-238dup XP_011520272.1:n.-239_-238dup
XM_011521971.1:c.-118_-117dup XP_011520273.1:n.-118_-117dup
XR_931897.1:n.58_59dup
XM_011521971.2:c.-118_-117dup XP_011520273.1:n.-118_-117dup
NM_003246.4:c.-118_-117dup MANE Select NP_003237.2:n.-118_-117dup