Canonical Allele Identifier: CA2627736727

Gene: THBS1

Linked Data

• gnomAD v4: 15-39581176-AGCCCTCGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39581186_39581194del , CM000677.2:g.39581186_39581194del	GRCh38
NC_000015.9:g.39873387_39873395del , CM000677.1:g.39873387_39873395del	GRCh37
NC_000015.8:g.37660679_37660687del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.-72_-64del MANE Select	ENSP00000260356.5:n.-72_-64del
ENST00000260356.5:c.-72_-64del	ENSP00000260356.5:n.-72_-64del
ENST00000397591.2:c.-193_-185del	ENSP00000380720.2:n.-193_-185del
NM_003246.2:c.-72_-64del	NP_003237.2:n.-72_-64del
NM_003246.3:c.-72_-64del	NP_003237.2:n.-72_-64del
XM_011521970.1:c.-193_-185del	XP_011520272.1:n.-193_-185del
XM_011521971.1:c.-72_-64del	XP_011520273.1:n.-72_-64del
XR_931897.1:n.104_112del
XM_011521971.2:c.-72_-64del	XP_011520273.1:n.-72_-64del
NM_003246.4:c.-72_-64del MANE Select	NP_003237.2:n.-72_-64del