Canonical Allele Identifier: CA10622696

Gene: OSTM1

Linked Data

• ClinVar Variation Id: 354939
• ClinVar RCV Id: RCV000405194
• dbSNP Id: rs58798743
• gnomAD v2: 6-108363618-C-CT
• gnomAD v3: 6-108042414-C-CT
• gnomAD v4: 6-108042414-C-CT
• MyVariant Identifiers: chr6:g.108363619dupT (hg19) ; chr6:g.108363627_108363628insT (hg19) ; chr6:g.108363618_108363619insT (hg19) ; chr6:g.108042415dupT (hg38) ; chr6:g.108042423_108042424insT (hg38) ; chr6:g.108042414_108042415insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.108042433dup , CM000668.2:g.108042433dup	GRCh38
NC_000006.11:g.108363637dup , CM000668.1:g.108363637dup	GRCh37
NC_000006.10:g.108470330dup	NCBI36
NG_007262.1:g.37323dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467960.2:c.*3085dup	ENSP00000514449.1:n.*3085dup
ENST00000477774.2:n.2729dup
ENST00000492130.2:c.*2219-151dup	ENSP00000514453.1:n.*2219-151dup
ENST00000699569.1:c.*2218+152dup	ENSP00000514443.1:n.*2218+152dup
ENST00000699570.1:n.3829dup
ENST00000699571.1:n.3091dup
ENST00000699572.1:c.*2602dup	ENSP00000514444.1:n.*2602dup
ENST00000699573.1:c.*2370dup	ENSP00000514445.1:n.*2370dup
ENST00000699574.1:c.*3219dup	ENSP00000514446.1:n.*3219dup
ENST00000699575.1:c.*3083dup	ENSP00000514447.1:n.*3083dup
ENST00000699576.1:c.*3076dup	ENSP00000514448.1:n.*3076dup
ENST00000699577.1:c.*2370dup	ENSP00000514450.1:n.*2370dup
ENST00000699578.1:c.*2602dup	ENSP00000514451.1:n.*2602dup
ENST00000699579.1:c.*2533dup	ENSP00000514452.1:n.*2533dup
ENST00000699580.1:c.*2370dup	ENSP00000514454.1:n.*2370dup
ENST00000699581.1:c.*2370dup	ENSP00000514455.1:n.*2370dup
ENST00000193322.8:c.*2370dup MANE Select	ENSP00000193322.3:n.*2370dup
ENST00000193322.7:c.*2370dup	ENSP00000193322.3:n.*2370dup
ENST00000492130.1:n.1673-151dup
NM_014028.3:c.*2370dup	NP_054747.2:n.*2370dup
NM_014028.4:c.*2370dup MANE Select	NP_054747.2:n.*2370dup