Canonical Allele Identifier: CA268716638

Gene: THBS1

Linked Data

• dbSNP Id: rs1049678473
• gnomAD v3: 15-39581229-G-GT
• gnomAD v4: 15-39581229-G-GT
• MyVariant Identifiers: chr15:g.39873430_39873431insT (hg19) ; chr15:g.39581229_39581230insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39581230dup , CM000677.2:g.39581230dup	GRCh38
NC_000015.9:g.39873431dup , CM000677.1:g.39873431dup	GRCh37
NC_000015.8:g.37660723dup	NCBI36

Transcript Alleles

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