Canonical Allele Identifier: CA2687828016
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86739850-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739853del , CM000670.2:g.86739853del GRCh38
NC_000008.10:g.87752081del , CM000670.1:g.87752081del GRCh37
NC_000008.9:g.87821197del NCBI36
NG_016980.1:g.8825del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.130-115del MANE Select ENSP00000316605.5:n.130-115del
ENST00000681746.1:c.130-115del ENSP00000505959.1:n.130-115del
ENST00000320005.5:c.130-115del ENSP00000316605.5:n.130-115del
ENST00000519777.1:n.112-115del
NM_019098.4:c.130-115del NP_061971.3:n.130-115del
NM_019098.5:c.130-115del MANE Select NP_061971.3:n.130-115del
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Search 100 bp 3'