Canonical Allele Identifier: CA983833721
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs2085431057
gnomAD v3: 17-42404715-A-ACGGCGTCCGACTCCT
gnomAD v4: 17-42404715-A-ACGGCGTCCGACTCCT
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404719_42404733dup , CM000679.2:g.42404719_42404733dup GRCh38
NC_000017.10:g.40556737_40556751dup , CM000679.1:g.40556737_40556751dup GRCh37
NC_000017.9:g.37810263_37810277dup NCBI36
NG_015845.1:g.23591_23605dup
NG_015845.2:g.23591_23605dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1130_1144dup MANE Select ENSP00000349541.4:p.Ala381_Val382insGluGluSerAspAla
ENST00000357037.5:c.1130_1144dup ENSP00000349541.4:p.Ala381_Val382insGluGluSerAspAla
NM_012232.5:c.1130_1144dup NP_036364.2:p.Ala381_Val382insGluGluSerAspAla
NM_012232.6:c.1130_1144dup MANE Select NP_036364.2:p.Ala381_Val382insGluGluSerAspAla
Search 100 bp 5'
Search 100 bp 3'