Canonical Allele Identifier: CA582920885
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v2: 8-87680392-C-CCTG
MyVariant Identifiers: chr8:g.87680392_87680393insCTG (hg19) chr8:g.86668164_86668165insCTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668164_86668165insCTG , CM000670.2:g.86668164_86668165insCTG GRCh38
NC_000008.10:g.87680392_87680393insCTG , CM000670.1:g.87680392_87680393insCTG GRCh37
NC_000008.9:g.87749508_87749509insCTG NCBI36
NG_016980.1:g.80511_80512insCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.497_498insCAG MANE Select ENSP00000316605.5:p.Lys166delinsAsnArg
ENST00000680314.1:n.258_259insCAG
ENST00000681746.1:c.497_498insCAG ENSP00000505959.1:p.Lys166delinsAsnArg
ENST00000320005.5:c.497_498insCAG ENSP00000316605.5:p.Lys166delinsAsnArg
NM_019098.4:c.497_498insCAG NP_061971.3:p.Lys166delinsAsnArg
XM_011517138.1:c.83_84insCAG XP_011515440.1:p.Lys28delinsAsnArg
XM_011517138.2:c.83_84insCAG XP_011515440.1:p.Lys28delinsAsnArg
NM_019098.5:c.497_498insCAG MANE Select NP_061971.3:p.Lys166delinsAsnArg
Search 100 bp 5'
Search 100 bp 3'