Canonical Allele Identifier: CA2529705173

Gene: THBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39581288_39581289insCAGGGCGTCGCGGA , CM000677.2:g.39581288_39581289insCAGGGCGTCGCGGA	GRCh38
NC_000015.9:g.39873489_39873490insCAGGGCGTCGCGGA , CM000677.1:g.39873489_39873490insCAGGGCGTCGCGGA	GRCh37
NC_000015.8:g.37660781_37660782insCAGGGCGTCGCGGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.-30+60_-30+61insCAGGGCGTCGCGGA MANE Select	ENSP00000260356.5:n.-30+60_-30+61insCAGGGCGTCGCGGA
ENST00000260356.5:c.-30+60_-30+61insCAGGGCGTCGCGGA	ENSP00000260356.5:n.-30+60_-30+61insCAGGGCGTCGCGGA
ENST00000397591.2:c.-151+60_-151+61insCAGGGCGTCGCGGA	ENSP00000380720.2:n.-151+60_-151+61insCAGGGCGTCGCGGA
NM_003246.2:c.-30+60_-30+61insCAGGGCGTCGCGGA	NP_003237.2:n.-30+60_-30+61insCAGGGCGTCGCGGA
NM_003246.3:c.-30+60_-30+61insCAGGGCGTCGCGGA	NP_003237.2:n.-30+60_-30+61insCAGGGCGTCGCGGA
XM_011521970.1:c.-151+60_-151+61insCAGGGCGTCGCGGA	XP_011520272.1:n.-151+60_-151+61insCAGGGCGTCGCGGA
XM_011521971.1:c.-30+60_-30+61insCAGGGCGTCGCGGA	XP_011520273.1:n.-30+60_-30+61insCAGGGCGTCGCGGA
XR_931897.1:n.146+60_146+61insCAGGGCGTCGCGGA
XM_011521971.2:c.-30+60_-30+61insCAGGGCGTCGCGGA	XP_011520273.1:n.-30+60_-30+61insCAGGGCGTCGCGGA
NM_003246.4:c.-30+60_-30+61insCAGGGCGTCGCGGA MANE Select	NP_003237.2:n.-30+60_-30+61insCAGGGCGTCGCGGA