Canonical Allele Identifier: CA2627736729
Gene: THBS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39581180del , CM000677.2:g.39581180del GRCh38
NC_000015.9:g.39873381del , CM000677.1:g.39873381del GRCh37
NC_000015.8:g.37660673del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260356.6:c.-78del MANE Select ENSP00000260356.5:n.-78del
ENST00000260356.5:c.-78del ENSP00000260356.5:n.-78del
ENST00000397591.2:c.-199del ENSP00000380720.2:n.-199del
NM_003246.2:c.-78del NP_003237.2:n.-78del
NM_003246.3:c.-78del NP_003237.2:n.-78del
XM_011521970.1:c.-199del XP_011520272.1:n.-199del
XM_011521971.1:c.-78del XP_011520273.1:n.-78del
XR_931897.1:n.98del
XM_011521971.2:c.-78del XP_011520273.1:n.-78del
NM_003246.4:c.-78del MANE Select NP_003237.2:n.-78del