Canonical Allele Identifier: CA2637956463
Gene: CAVIN1 HGNC NCBI

Linked Data

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

HGVS Genome Assembly
NC_000017.11:g.42404784_42404785insTGCGCTTGATA , CM000679.2:g.42404784_42404785insTGCGCTTGATA GRCh38
NC_000017.10:g.40556802_40556803insTGCGCTTGATA , CM000679.1:g.40556802_40556803insTGCGCTTGATA GRCh37
NC_000017.9:g.37810328_37810329insTGCGCTTGATA NCBI36
NG_015845.1:g.23536_23537insTATCAAGCGCA
NG_015845.2:g.23536_23537insTATCAAGCGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1075_1076insTATCAAGCGCA MANE Select ENSP00000349541.4:p.Gly359ValfsTer?
ENST00000357037.5:c.1075_1076insTATCAAGCGCA ENSP00000349541.4:p.Gly359ValfsTer?
NM_012232.5:c.1075_1076insTATCAAGCGCA NP_036364.2:p.Gly359ValfsTer?
NM_012232.6:c.1075_1076insTATCAAGCGCA MANE Select NP_036364.2:p.Gly359ValfsTer?
Search 100 bp 5'
Search 100 bp 3'