Canonical Allele Identifier: CA290748938
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1038644778
MyVariant Identifiers: chr17:g.40555118_40555119del (hg19) chr17:g.42403100_42403101del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42403102_42403103del , CM000679.2:g.42403102_42403103del GRCh38
NC_000017.10:g.40555120_40555121del , CM000679.1:g.40555120_40555121del GRCh37
NC_000017.9:g.37808646_37808647del NCBI36
NG_015845.1:g.25220_25221del
NG_015845.2:g.25220_25221del

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*1586_*1587del MANE Select ENSP00000349541.4:n.*1586_*1587del
ENST00000357037.5:c.*1586_*1587del ENSP00000349541.4:n.*1586_*1587del
NM_012232.5:c.*1586_*1587del NP_036364.2:n.*1586_*1587del
NM_012232.6:c.*1586_*1587del MANE Select NP_036364.2:n.*1586_*1587del
Search 100 bp 5'
Search 100 bp 3'