Canonical Allele Identifier: CA2637956459
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404756-GTCGGGGCTGCTCCCGCGCCGCAGGTCGCCGGCCTCCCCGCGCTCCGCGCCGCCCTCGTCGTCGTCGGCGCCCACCTCCACCATC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404761_42404844del , CM000679.2:g.42404761_42404844del GRCh38
NC_000017.10:g.40556779_40556862del , CM000679.1:g.40556779_40556862del GRCh37
NC_000017.9:g.37810305_37810388del NCBI36
NG_015845.1:g.23481_23564del
NG_015845.2:g.23481_23564del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1020_1103del MANE Select ENSP00000349541.4:p.Glu340_Pro367del
ENST00000357037.5:c.1020_1103del ENSP00000349541.4:p.Glu340_Pro367del
NM_012232.5:c.1020_1103del NP_036364.2:p.Glu340_Pro367del
NM_012232.6:c.1020_1103del MANE Select NP_036364.2:p.Glu340_Pro367del
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