Canonical Allele Identifier: CA2260466060
Gene: CAVIN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42403099_42403101delinsACT , CM000679.2:g.42403099_42403101delinsACT GRCh38
NC_000017.10:g.40555117_40555119delinsACT , CM000679.1:g.40555117_40555119delinsACT GRCh37
NC_000017.9:g.37808643_37808645delinsACT NCBI36
NG_015845.1:g.25220_25222delinsAGT
NG_015845.2:g.25220_25222delinsAGT

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*1586_*1588delinsAGT MANE Select ENSP00000349541.4:n.*1586_*1588delinsAGT
ENST00000357037.5:c.*1586_*1588delinsAGT ENSP00000349541.4:n.*1586_*1588delinsAGT
NM_012232.5:c.*1586_*1588delinsAGT NP_036364.2:n.*1586_*1588delinsAGT
NM_012232.6:c.*1586_*1588delinsAGT MANE Select NP_036364.2:n.*1586_*1588delinsAGT
Search 100 bp 5'
Search 100 bp 3'