Canonical Allele Identifier: CA2687827899

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86739620-G-GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739638_86739639insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT , CM000670.2:g.86739638_86739639insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000008.10:g.87751866_87751867insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT , CM000670.1:g.87751866_87751867insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000008.9:g.87820982_87820983insTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_016980.1:g.9055_9056insAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.211+34_211+35insAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000316605.5:n.211+34_211+35insAACAAAAAAAAAAAAAAAAAAAAAA...
ENST00000681746.1:c.211+34_211+35insAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000505959.1:n.211+34_211+35insAACAAAAAAAAAAAAAAAAAAAAAA...
ENST00000320005.5:c.211+34_211+35insAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000316605.5:n.211+34_211+35insAACAAAAAAAAAAAAAAAAAAAAAA...
ENST00000519777.1:n.193+34_193+35insAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NM_019098.4:c.211+34_211+35insAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_061971.3:n.211+34_211+35insAACAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_019098.5:c.211+34_211+35insAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_061971.3:n.211+34_211+35insAACAAAAAAAAAAAAAAAAAAAAAAAAAAAA...