Canonical Allele Identifier: CA2260466798
Gene: CAVIN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404768_42404799delinsCCCGCGCCGCAGGTCGCCGGCCTCCCCGCGCT , CM000679.2:g.42404768_42404799delinsCCCGCGCCGCAGGTCGCCGGCCTCCCCGCGCT GRCh38
NC_000017.10:g.40556786_40556817delinsCCCGCGCCGCAGGTCGCCGGCCTCCCCGCGCT , CM000679.1:g.40556786_40556817delinsCCCGCGCCGCAGGTCGCCGGCCTCCCCGCGCT GRCh37
NC_000017.9:g.37810312_37810343delinsCCCGCGCCGCAGGTCGCCGGCCTCCCCGCGCT NCBI36
NG_015845.1:g.23522_23553delinsAGCGCGGGGAGGCCGGCGACCTGCGGCGCGGG
NG_015845.2:g.23522_23553delinsAGCGCGGGGAGGCCGGCGACCTGCGGCGCGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1061_1092delinsAGCGCGGGGAGGCCGGCGACCTGCGGCGCGGG MANE Select ENSP00000349541.4:p.Glu354=
ENST00000357037.5:c.1061_1092delinsAGCGCGGGGAGGCCGGCGACCTGCGGCGCGGG ENSP00000349541.4:p.Glu354=
NM_012232.5:c.1061_1092delinsAGCGCGGGGAGGCCGGCGACCTGCGGCGCGGG NP_036364.2:p.Glu354=
NM_012232.6:c.1061_1092delinsAGCGCGGGGAGGCCGGCGACCTGCGGCGCGGG MANE Select NP_036364.2:p.Glu354=
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