Canonical Allele Identifier: CA712629927

Gene: THBS1

Linked Data

• dbSNP Id: rs1475367450
• gnomAD v4: 15-39581191-CGCCACCGCTCCCG-C
• MyVariant Identifiers: chr15:g.39873393_39873405del (hg19) ; chr15:g.39581192_39581204del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39581195_39581207del , CM000677.2:g.39581195_39581207del	GRCh38
NC_000015.9:g.39873396_39873408del , CM000677.1:g.39873396_39873408del	GRCh37
NC_000015.8:g.37660688_37660700del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.-63_-51del MANE Select	ENSP00000260356.5:n.-63_-51del
ENST00000260356.5:c.-63_-51del	ENSP00000260356.5:n.-63_-51del
ENST00000397591.2:c.-184_-172del	ENSP00000380720.2:n.-184_-172del
NM_003246.2:c.-63_-51del	NP_003237.2:n.-63_-51del
NM_003246.3:c.-63_-51del	NP_003237.2:n.-63_-51del
XM_011521970.1:c.-184_-172del	XP_011520272.1:n.-184_-172del
XM_011521971.1:c.-63_-51del	XP_011520273.1:n.-63_-51del
XR_931897.1:n.113_125del
XM_011521971.2:c.-63_-51del	XP_011520273.1:n.-63_-51del
NM_003246.4:c.-63_-51del MANE Select	NP_003237.2:n.-63_-51del