Canonical Allele Identifier: CA290750119
Gene: CAVIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1193122
ClinVar RCV Id: RCV001555420
dbSNP Id: rs3833143
gnomAD v2: 17-40556633-C-CGAGCCGAGA
gnomAD v3: 17-42404615-C-CGAGCCGAGA
gnomAD v4: 17-42404615-C-CGAGCCGAGA
MyVariant Identifiers: chr17:g.40556633_40556634insGAGCCGAGA (hg19) chr17:g.42404615_42404616insGAGCCGAGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404619_42404627dup , CM000679.2:g.42404619_42404627dup GRCh38
NC_000017.10:g.40556637_40556645dup , CM000679.1:g.40556637_40556645dup GRCh37
NC_000017.9:g.37810163_37810171dup NCBI36
NG_015845.1:g.23697_23705dup
NG_015845.2:g.23697_23705dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.*63_*71dup MANE Select ENSP00000349541.4:n.*63_*71dup
ENST00000357037.5:c.*63_*71dup ENSP00000349541.4:n.*63_*71dup
NM_012232.5:c.*63_*71dup NP_036364.2:n.*63_*71dup
NM_012232.6:c.*63_*71dup MANE Select NP_036364.2:n.*63_*71dup
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Search 100 bp 3'