Canonical Allele Identifier: CA626218339
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs767832643
gnomAD v2: 17-40556828-C-CTCG
gnomAD v4: 17-42404810-C-CTCG
MyVariant Identifiers: chr17:g.40556831_40556832insTCG (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404820_42404822dup , CM000679.2:g.42404820_42404822dup GRCh38
NC_000017.10:g.40556838_40556840dup , CM000679.1:g.40556838_40556840dup GRCh37
NC_000017.9:g.37810364_37810366dup NCBI36
NG_015845.1:g.23508_23510dup
NG_015845.2:g.23508_23510dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1047_1049dup MANE Select ENSP00000349541.4:p.Asp349_Glu350insAsp
ENST00000357037.5:c.1047_1049dup ENSP00000349541.4:p.Asp349_Glu350insAsp
NM_012232.5:c.1047_1049dup NP_036364.2:p.Asp349_Glu350insAsp
NM_012232.6:c.1047_1049dup MANE Select NP_036364.2:p.Asp349_Glu350insAsp
Search 100 bp 5'
Search 100 bp 3'