Canonical Allele Identifier: CA2687825571
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86647801-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86647804del , CM000670.2:g.86647804del GRCh38
NC_000008.10:g.87660032del , CM000670.1:g.87660032del GRCh37
NC_000008.9:g.87729148del NCBI36
NG_016980.1:g.100874del

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.989del MANE Select ENSP00000316605.5:p.Lys330SerfsTer12
ENST00000681546.1:n.809del
ENST00000681746.1:c.989del ENSP00000505959.1:p.Lys330SerfsTer12
ENST00000320005.5:c.989del ENSP00000316605.5:p.Lys330SerfsTer12
NM_019098.4:c.989del NP_061971.3:p.Lys330SerfsTer12
XM_011517138.1:c.575del XP_011515440.1:p.Lys192SerfsTer12
XM_011517138.2:c.575del XP_011515440.1:p.Lys192SerfsTer12
NM_019098.5:c.989del MANE Select NP_061971.3:p.Lys330SerfsTer12
Search 100 bp 5'
Search 100 bp 3'