Canonical Allele Identifier: CA712629989

Gene: THBS1

Linked Data

• dbSNP Id: rs1449552464
• MyVariant Identifiers: chr15:g.39873436_39873448del (hg19) ; chr15:g.39581235_39581247del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39581239_39581251del , CM000677.2:g.39581239_39581251del	GRCh38
NC_000015.9:g.39873440_39873452del , CM000677.1:g.39873440_39873452del	GRCh37
NC_000015.8:g.37660732_37660744del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.-30+11_-30+23del MANE Select	ENSP00000260356.5:n.-30+11_-30+23del
ENST00000260356.5:c.-30+11_-30+23del	ENSP00000260356.5:n.-30+11_-30+23del
ENST00000397591.2:c.-151+11_-151+23del	ENSP00000380720.2:n.-151+11_-151+23del
NM_003246.2:c.-30+11_-30+23del	NP_003237.2:n.-30+11_-30+23del
NM_003246.3:c.-30+11_-30+23del	NP_003237.2:n.-30+11_-30+23del
XM_011521970.1:c.-151+11_-151+23del	XP_011520272.1:n.-151+11_-151+23del
XM_011521971.1:c.-30+11_-30+23del	XP_011520273.1:n.-30+11_-30+23del
XR_931897.1:n.146+11_146+23del
XM_011521971.2:c.-30+11_-30+23del	XP_011520273.1:n.-30+11_-30+23del
NM_003246.4:c.-30+11_-30+23del MANE Select	NP_003237.2:n.-30+11_-30+23del