Canonical Allele Identifier: CA10622698

Gene: OSTM1

Linked Data

• ClinVar Variation Id: 354942
• ClinVar RCV Id: RCV000259310
• dbSNP Id: rs886060962
• gnomAD v3: 6-108042433-TG-T
• gnomAD v4: 6-108042433-TG-T
• MyVariant Identifiers: chr6:g.108363638del (hg19) ; chr6:g.108042434del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.108042434del , CM000668.2:g.108042434del	GRCh38
NC_000006.11:g.108363638del , CM000668.1:g.108363638del	GRCh37
NC_000006.10:g.108470331del	NCBI36
NG_007262.1:g.37304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467960.2:c.*3066del	ENSP00000514449.1:n.*3066del
ENST00000477774.2:n.2710del
ENST00000492130.2:c.*2218+133del	ENSP00000514453.1:n.*2218+133del
ENST00000699569.1:c.*2218+133del	ENSP00000514443.1:n.*2218+133del
ENST00000699570.1:n.3810del
ENST00000699571.1:n.3072del
ENST00000699572.1:c.*2583del	ENSP00000514444.1:n.*2583del
ENST00000699573.1:c.*2351del	ENSP00000514445.1:n.*2351del
ENST00000699574.1:c.*3200del	ENSP00000514446.1:n.*3200del
ENST00000699575.1:c.*3064del	ENSP00000514447.1:n.*3064del
ENST00000699576.1:c.*3057del	ENSP00000514448.1:n.*3057del
ENST00000699577.1:c.*2351del	ENSP00000514450.1:n.*2351del
ENST00000699578.1:c.*2583del	ENSP00000514451.1:n.*2583del
ENST00000699579.1:c.*2514del	ENSP00000514452.1:n.*2514del
ENST00000699580.1:c.*2351del	ENSP00000514454.1:n.*2351del
ENST00000699581.1:c.*2351del	ENSP00000514455.1:n.*2351del
ENST00000193322.8:c.*2351del MANE Select	ENSP00000193322.3:n.*2351del
ENST00000193322.7:c.*2351del	ENSP00000193322.3:n.*2351del
ENST00000492130.1:n.1672+133del
NM_014028.3:c.*2351del	NP_054747.2:n.*2351del
NM_014028.4:c.*2351del MANE Select	NP_054747.2:n.*2351del