Canonical Allele Identifier: CA2515898463

Gene: THBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39581286_39581287insTCG , CM000677.2:g.39581286_39581287insTCG	GRCh38
NC_000015.9:g.39873487_39873488insTCG , CM000677.1:g.39873487_39873488insTCG	GRCh37
NC_000015.8:g.37660779_37660780insTCG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.-30+58_-30+59insTCG MANE Select	ENSP00000260356.5:n.-30+58_-30+59insTCG
ENST00000260356.5:c.-30+58_-30+59insTCG	ENSP00000260356.5:n.-30+58_-30+59insTCG
ENST00000397591.2:c.-151+58_-151+59insTCG	ENSP00000380720.2:n.-151+58_-151+59insTCG
NM_003246.2:c.-30+58_-30+59insTCG	NP_003237.2:n.-30+58_-30+59insTCG
NM_003246.3:c.-30+58_-30+59insTCG	NP_003237.2:n.-30+58_-30+59insTCG
XM_011521970.1:c.-151+58_-151+59insTCG	XP_011520272.1:n.-151+58_-151+59insTCG
XM_011521971.1:c.-30+58_-30+59insTCG	XP_011520273.1:n.-30+58_-30+59insTCG
XR_931897.1:n.146+58_146+59insTCG
XM_011521971.2:c.-30+58_-30+59insTCG	XP_011520273.1:n.-30+58_-30+59insTCG
NM_003246.4:c.-30+58_-30+59insTCG MANE Select	NP_003237.2:n.-30+58_-30+59insTCG