Canonical Allele Identifier: CA2687828013
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86739848-CTGTT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739850_86739853del , CM000670.2:g.86739850_86739853del GRCh38
NC_000008.10:g.87752078_87752081del , CM000670.1:g.87752078_87752081del GRCh37
NC_000008.9:g.87821194_87821197del NCBI36
NG_016980.1:g.8824_8827del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.130-116_130-113del MANE Select ENSP00000316605.5:n.130-116_130-113del
ENST00000681746.1:c.130-116_130-113del ENSP00000505959.1:n.130-116_130-113del
ENST00000320005.5:c.130-116_130-113del ENSP00000316605.5:n.130-116_130-113del
ENST00000519777.1:n.112-116_112-113del
NM_019098.4:c.130-116_130-113del NP_061971.3:n.130-116_130-113del
NM_019098.5:c.130-116_130-113del MANE Select NP_061971.3:n.130-116_130-113del
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