Canonical Allele Identifier: CA8575758
Gene: CAVIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 917427
ClinVar RCV Id: RCV001174404
dbSNP Id: rs767832643
ExAC: 17:40556828 CTCG / C
gnomAD v2: 17-40556828-CTCG-C
gnomAD v3: 17-42404810-CTCG-C
gnomAD v4: 17-42404810-CTCG-C
MyVariant Identifiers: chr17:g.40556829_40556831del (hg19) chr17:g.42404812_42404814del (hg38) chr17:g.42404811_42404813del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404820_42404822del , CM000679.2:g.42404820_42404822del GRCh38
NC_000017.10:g.40556838_40556840del , CM000679.1:g.40556838_40556840del GRCh37
NC_000017.9:g.37810364_37810366del NCBI36
NG_015845.1:g.23508_23510del
NG_015845.2:g.23508_23510del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1047_1049del MANE Select ENSP00000349541.4:p.Asp349del
ENST00000357037.5:c.1047_1049del ENSP00000349541.4:p.Asp349del
NM_012232.5:c.1047_1049del NP_036364.2:p.Asp349del
NM_012232.6:c.1047_1049del MANE Select NP_036364.2:p.Asp349del
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