Canonical Allele Identifier: CA2637956023
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404389-GCCTAACCGTGGAATCACTGCAATTTCCTCTGAGATCCCGACTTGGACAACCAGGACAGGGATTGACCATTCCCTTCCCATTCCACTCGGACTGTGTCCAAGCGGGGGTTGTCCACTGCGGGGGCTGCCTCCCCATCGGGT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404396_42404535del , CM000679.2:g.42404396_42404535del GRCh38
NC_000017.10:g.40556414_40556553del , CM000679.1:g.40556414_40556553del GRCh37
NC_000017.9:g.37809940_37810079del NCBI36
NG_015845.1:g.23792_23931del
NG_015845.2:g.23792_23931del

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*158_*297del MANE Select ENSP00000349541.4:n.*158_*297del
ENST00000357037.5:c.*158_*297del ENSP00000349541.4:n.*158_*297del
NM_012232.5:c.*158_*297del NP_036364.2:n.*158_*297del
NM_012232.6:c.*158_*297del MANE Select NP_036364.2:n.*158_*297del
Search 100 bp 5'
Search 100 bp 3'