Canonical Allele Identifier: CA2637956461
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404767-TCCCGCGCCGCAGGTCGCCGGCCTCCCCGCG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404769_42404798del , CM000679.2:g.42404769_42404798del GRCh38
NC_000017.10:g.40556787_40556816del , CM000679.1:g.40556787_40556816del GRCh37
NC_000017.9:g.37810313_37810342del NCBI36
NG_015845.1:g.23524_23553del
NG_015845.2:g.23524_23553del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1063_1092del MANE Select ENSP00000349541.4:p.Arg355_Gly364del
ENST00000357037.5:c.1063_1092del ENSP00000349541.4:p.Arg355_Gly364del
NM_012232.5:c.1063_1092del NP_036364.2:p.Arg355_Gly364del
NM_012232.6:c.1063_1092del MANE Select NP_036364.2:p.Arg355_Gly364del
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