Canonical Allele Identifier: CA2171396523

Gene: THBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39581191_39581204delinsCGCCACCGCTCCCG , CM000677.2:g.39581191_39581204delinsCGCCACCGCTCCCG	GRCh38
NC_000015.9:g.39873392_39873405delinsCGCCACCGCTCCCG , CM000677.1:g.39873392_39873405delinsCGCCACCGCTCCCG	GRCh37
NC_000015.8:g.37660684_37660697delinsCGCCACCGCTCCCG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.-67_-54delinsCGCCACCGCTCCCG MANE Select	ENSP00000260356.5:n.-67_-54delinsCGCCACCGCTCCCG
ENST00000260356.5:c.-67_-54delinsCGCCACCGCTCCCG	ENSP00000260356.5:n.-67_-54delinsCGCCACCGCTCCCG
ENST00000397591.2:c.-188_-175delinsCGCCACCGCTCCCG	ENSP00000380720.2:n.-188_-175delinsCGCCACCGCTCCCG
NM_003246.2:c.-67_-54delinsCGCCACCGCTCCCG	NP_003237.2:n.-67_-54delinsCGCCACCGCTCCCG
NM_003246.3:c.-67_-54delinsCGCCACCGCTCCCG	NP_003237.2:n.-67_-54delinsCGCCACCGCTCCCG
XM_011521970.1:c.-188_-175delinsCGCCACCGCTCCCG	XP_011520272.1:n.-188_-175delinsCGCCACCGCTCCCG
XM_011521971.1:c.-67_-54delinsCGCCACCGCTCCCG	XP_011520273.1:n.-67_-54delinsCGCCACCGCTCCCG
XR_931897.1:n.109_122delinsCGCCACCGCTCCCG
XM_011521971.2:c.-67_-54delinsCGCCACCGCTCCCG	XP_011520273.1:n.-67_-54delinsCGCCACCGCTCCCG
NM_003246.4:c.-67_-54delinsCGCCACCGCTCCCG MANE Select	NP_003237.2:n.-67_-54delinsCGCCACCGCTCCCG