Canonical Allele Identifier: CA2627736825
Gene: THBS1 HGNC NCBI

Linked Data

gnomAD v4: 15-39581252-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39581253del , CM000677.2:g.39581253del GRCh38
NC_000015.9:g.39873454del , CM000677.1:g.39873454del GRCh37
NC_000015.8:g.37660746del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260356.6:c.-30+25del MANE Select ENSP00000260356.5:n.-30+25del
ENST00000260356.5:c.-30+25del ENSP00000260356.5:n.-30+25del
ENST00000397591.2:c.-151+25del ENSP00000380720.2:n.-151+25del
NM_003246.2:c.-30+25del NP_003237.2:n.-30+25del
NM_003246.3:c.-30+25del NP_003237.2:n.-30+25del
XM_011521970.1:c.-151+25del XP_011520272.1:n.-151+25del
XM_011521971.1:c.-30+25del XP_011520273.1:n.-30+25del
XR_931897.1:n.146+25del
XM_011521971.2:c.-30+25del XP_011520273.1:n.-30+25del
NM_003246.4:c.-30+25del MANE Select NP_003237.2:n.-30+25del
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