Canonical Allele Identifier: CA2503255498

Gene: THBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39581290_39581291insTCGTCGATCAGCAGGTTCTTGGACAGGTCGACGTAGAGGTCCCCCAGCTCGTAGGAGAACCGCTCGGCGCGCTCGGGATCGTCGGCGAACCAGGCGCGC , CM000677.2:g.39581290_39581291insTCGTCGATCAGCAGGTTCTTGGACAGGTCGACGTAGAGGTCCCCCAGCTCGTAGGAGAACCGCTCGGCGCGCTCGGGATCGTCGGCGAACCAGGCGCGC	GRCh38
NC_000015.9:g.39873491_39873492insTCGTCGATCAGCAGGTTCTTGGACAGGTCGACGTAGAGGTCCCCCAGCTCGTAGGAGAACCGCTCGGCGCGCTCGGGATCGTCGGCGAACCAGGCGCGC , CM000677.1:g.39873491_39873492insTCGTCGATCAGCAGGTTCTTGGACAGGTCGACGTAGAGGTCCCCCAGCTCGTAGGAGAACCGCTCGGCGCGCTCGGGATCGTCGGCGAACCAGGCGCGC	GRCh37
NC_000015.8:g.37660783_37660784insTCGTCGATCAGCAGGTTCTTGGACAGGTCGACGTAGAGGTCCCCCAGCTCGTAGGAGAACCGCTCGGCGCGCTCGGGATCGTCGGCGAACCAGGCGCGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.-30+62_-30+63insTCGTCGATCAGCAGGTTCTTGGACAGGTCGACGTAGAGGTCCCCCAGCTCGTAGGAGAACCGCTCGGCGCGCTCGGGATCGTCGGCGAACCAGGCGCGC MANE Select	ENSP00000260356.5:n.-30+62_-30+63insTCGTCGATCAGCAGGTTCTTGGACA...
ENST00000260356.5:c.-30+62_-30+63insTCGTCGATCAGCAGGTTCTTGGACAGGTCGACGTAGAGGTCCCCCAGCTCGTAGGAGAACCGCTCGGCGCGCTCGGGATCGTCGGCGAACCAGGCGCGC	ENSP00000260356.5:n.-30+62_-30+63insTCGTCGATCAGCAGGTTCTTGGACA...
ENST00000397591.2:c.-151+62_-151+63insTCGTCGATCAGCAGGTTCTTGGACAGGTCGACGTAGAGGTCCCCCAGCTCGTAGGAGAACCGCTCGGCGCGCTCGGGATCGTCGGCGAACCAGGCGCGC	ENSP00000380720.2:n.-151+62_-151+63insTCGTCGATCAGCAGGTTCTTGGA...
NM_003246.2:c.-30+62_-30+63insTCGTCGATCAGCAGGTTCTTGGACAGGTCGACGTAGAGGTCCCCCAGCTCGTAGGAGAACCGCTCGGCGCGCTCGGGATCGTCGGCGAACCAGGCGCGC	NP_003237.2:n.-30+62_-30+63insTCGTCGATCAGCAGGTTCTTGGACAGGTCGA...
NM_003246.3:c.-30+62_-30+63insTCGTCGATCAGCAGGTTCTTGGACAGGTCGACGTAGAGGTCCCCCAGCTCGTAGGAGAACCGCTCGGCGCGCTCGGGATCGTCGGCGAACCAGGCGCGC	NP_003237.2:n.-30+62_-30+63insTCGTCGATCAGCAGGTTCTTGGACAGGTCGA...
XM_011521970.1:c.-151+62_-151+63insTCGTCGATCAGCAGGTTCTTGGACAGGTCGACGTAGAGGTCCCCCAGCTCGTAGGAGAACCGCTCGGCGCGCTCGGGATCGTCGGCGAACCAGGCGCGC	XP_011520272.1:n.-151+62_-151+63insTCGTCGATCAGCAGGTTCTTGGACAG...
XM_011521971.1:c.-30+62_-30+63insTCGTCGATCAGCAGGTTCTTGGACAGGTCGACGTAGAGGTCCCCCAGCTCGTAGGAGAACCGCTCGGCGCGCTCGGGATCGTCGGCGAACCAGGCGCGC	XP_011520273.1:n.-30+62_-30+63insTCGTCGATCAGCAGGTTCTTGGACAGGT...
XR_931897.1:n.146+62_146+63insTCGTCGATCAGCAGGTTCTTGGACAGGTCGACGTAGAGGTCCCCCAGCTCGTAGGAGAACCGCTCGGCGCGCTCGGGATCGTCGGCGAACCAGGCGCGC
XM_011521971.2:c.-30+62_-30+63insTCGTCGATCAGCAGGTTCTTGGACAGGTCGACGTAGAGGTCCCCCAGCTCGTAGGAGAACCGCTCGGCGCGCTCGGGATCGTCGGCGAACCAGGCGCGC	XP_011520273.1:n.-30+62_-30+63insTCGTCGATCAGCAGGTTCTTGGACAGGT...
NM_003246.4:c.-30+62_-30+63insTCGTCGATCAGCAGGTTCTTGGACAGGTCGACGTAGAGGTCCCCCAGCTCGTAGGAGAACCGCTCGGCGCGCTCGGGATCGTCGGCGAACCAGGCGCGC MANE Select	NP_003237.2:n.-30+62_-30+63insTCGTCGATCAGCAGGTTCTTGGACAGGTCGA...