Canonical Allele Identifier: CA968897747

Gene: THBS1

Linked Data

• dbSNP Id: rs1890094256
• gnomAD v3: 15-39581186-G-GCCCTCGCCA
• gnomAD v4: 15-39581186-G-GCCCTCGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39581189_39581197dup , CM000677.2:g.39581189_39581197dup	GRCh38
NC_000015.9:g.39873390_39873398dup , CM000677.1:g.39873390_39873398dup	GRCh37
NC_000015.8:g.37660682_37660690dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.-69_-61dup MANE Select	ENSP00000260356.5:n.-69_-61dup
ENST00000260356.5:c.-69_-61dup	ENSP00000260356.5:n.-69_-61dup
ENST00000397591.2:c.-190_-182dup	ENSP00000380720.2:n.-190_-182dup
NM_003246.2:c.-69_-61dup	NP_003237.2:n.-69_-61dup
NM_003246.3:c.-69_-61dup	NP_003237.2:n.-69_-61dup
XM_011521970.1:c.-190_-182dup	XP_011520272.1:n.-190_-182dup
XM_011521971.1:c.-69_-61dup	XP_011520273.1:n.-69_-61dup
XR_931897.1:n.107_115dup
XM_011521971.2:c.-69_-61dup	XP_011520273.1:n.-69_-61dup
NM_003246.4:c.-69_-61dup MANE Select	NP_003237.2:n.-69_-61dup