Canonical Allele Identifier: CA201659

Gene: OSTM1

Linked Data

• ClinVar Variation Id: 195291
• ClinVar RCV Id: RCV000175853 ; RCV000724855
• dbSNP Id: rs794727287
• MyVariant Identifiers: chr6:g.108385490_108385491del (hg19) ; chr6:g.108064286_108064287del (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.108064290_108064291del , CM000668.2:g.108064290_108064291del	GRCh38
NC_000006.11:g.108385494_108385495del , CM000668.1:g.108385494_108385495del	GRCh37
NC_000006.10:g.108492187_108492188del	NCBI36
NG_007262.1:g.15451_15452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467960.2:c.*125_*126del	ENSP00000514449.1:n.*125_*126del
ENST00000492130.2:c.415_416del	ENSP00000514453.1:p.Gln140GlufsTer11
ENST00000699569.1:c.415_416del	ENSP00000514443.1:p.Gln140GlufsTer11
ENST00000699571.1:n.131_132del
ENST00000699572.1:c.319_320del	ENSP00000514444.1:p.Gln108GlufsTer11
ENST00000699573.1:c.415_416del	ENSP00000514445.1:p.Gln140GlufsTer11
ENST00000699574.1:c.*259_*260del	ENSP00000514446.1:n.*259_*260del
ENST00000699575.1:c.*123_*124del	ENSP00000514447.1:n.*123_*124del
ENST00000699576.1:c.*64_*65del	ENSP00000514448.1:n.*64_*65del
ENST00000699577.1:c.415_416del	ENSP00000514450.1:p.Gln140GlufsTer11
ENST00000699578.1:c.415_416del	ENSP00000514451.1:p.Gln140GlufsTer11
ENST00000699579.1:c.415_416del	ENSP00000514452.1:p.Gln140GlufsTer11
ENST00000699580.1:c.-27_-26del	ENSP00000514454.1:n.-27_-26del
ENST00000699581.1:c.-27_-26del	ENSP00000514455.1:n.-27_-26del
ENST00000699582.1:n.515_516del
ENST00000193322.8:c.415_416del MANE Select	ENSP00000193322.3:p.Gln140GlufsTer11
ENST00000193322.7:c.415_416del	ENSP00000193322.3:p.Gln140GlufsTer11
ENST00000440575.6:c.-27_-26del	ENSP00000398556.2:n.-27_-26del
ENST00000467960.1:n.662_663del
NM_014028.3:c.415_416del	NP_054747.2:p.Gln140GlufsTer11
XM_011535775.1:c.415_416del	XP_011534077.1:p.Gln140GlufsTer11
XM_011535776.1:c.-27_-26del	XP_011534078.1:n.-27_-26del
XR_942410.1:n.498_499del
XR_942410.3:n.497_498del
NM_014028.4:c.415_416del MANE Select	NP_054747.2:p.Gln140GlufsTer11