Canonical Allele Identifier: CA2518099506

Gene: THBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39581283_39581284insGTGGCG , CM000677.2:g.39581283_39581284insGTGGCG	GRCh38
NC_000015.9:g.39873484_39873485insGTGGCG , CM000677.1:g.39873484_39873485insGTGGCG	GRCh37
NC_000015.8:g.37660776_37660777insGTGGCG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.-30+55_-30+56insGTGGCG MANE Select	ENSP00000260356.5:n.-30+55_-30+56insGTGGCG
ENST00000260356.5:c.-30+55_-30+56insGTGGCG	ENSP00000260356.5:n.-30+55_-30+56insGTGGCG
ENST00000397591.2:c.-151+55_-151+56insGTGGCG	ENSP00000380720.2:n.-151+55_-151+56insGTGGCG
NM_003246.2:c.-30+55_-30+56insGTGGCG	NP_003237.2:n.-30+55_-30+56insGTGGCG
NM_003246.3:c.-30+55_-30+56insGTGGCG	NP_003237.2:n.-30+55_-30+56insGTGGCG
XM_011521970.1:c.-151+55_-151+56insGTGGCG	XP_011520272.1:n.-151+55_-151+56insGTGGCG
XM_011521971.1:c.-30+55_-30+56insGTGGCG	XP_011520273.1:n.-30+55_-30+56insGTGGCG
XR_931897.1:n.146+55_146+56insGTGGCG
XM_011521971.2:c.-30+55_-30+56insGTGGCG	XP_011520273.1:n.-30+55_-30+56insGTGGCG
NM_003246.4:c.-30+55_-30+56insGTGGCG MANE Select	NP_003237.2:n.-30+55_-30+56insGTGGCG