Canonical Allele Identifier: CA2637956464
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404784-CCGGCCTCCCCGCGCTCCGCGCCGCCCTCGTCGTCGT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404789_42404824del , CM000679.2:g.42404789_42404824del GRCh38
NC_000017.10:g.40556807_40556842del , CM000679.1:g.40556807_40556842del GRCh37
NC_000017.9:g.37810333_37810368del NCBI36
NG_015845.1:g.23501_23536del
NG_015845.2:g.23501_23536del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1040_1075del MANE Select ENSP00000349541.4:p.Asp347_Ala358del
ENST00000357037.5:c.1040_1075del ENSP00000349541.4:p.Asp347_Ala358del
NM_012232.5:c.1040_1075del NP_036364.2:p.Asp347_Ala358del
NM_012232.6:c.1040_1075del MANE Select NP_036364.2:p.Asp347_Ala358del
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