Canonical Allele Identifier: CA2637956341
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404614-T-TCGAGC
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404619_42404623dup , CM000679.2:g.42404619_42404623dup GRCh38
NC_000017.10:g.40556637_40556641dup , CM000679.1:g.40556637_40556641dup GRCh37
NC_000017.9:g.37810163_37810167dup NCBI36
NG_015845.1:g.23702_23706dup
NG_015845.2:g.23702_23706dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.*68_*72dup MANE Select ENSP00000349541.4:n.*68_*72dup
ENST00000357037.5:c.*68_*72dup ENSP00000349541.4:n.*68_*72dup
NM_012232.5:c.*68_*72dup NP_036364.2:n.*68_*72dup
NM_012232.6:c.*68_*72dup MANE Select NP_036364.2:n.*68_*72dup
Search 100 bp 5'
Search 100 bp 3'