Canonical Allele Identifier: CA2687827918

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86739620-G-GTTTTTTTTTTTTTTTTTTTTTATATTTTTTTTTTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739638_86739639insTTTATATTTTTTTTTTATTTTTTTTTTTTTTTTTTT , CM000670.2:g.86739638_86739639insTTTATATTTTTTTTTTATTTTTTTTTTTTTTTTTTT	GRCh38
NC_000008.10:g.87751866_87751867insTTTATATTTTTTTTTTATTTTTTTTTTTTTTTTTTT , CM000670.1:g.87751866_87751867insTTTATATTTTTTTTTTATTTTTTTTTTTTTTTTTTT	GRCh37
NC_000008.9:g.87820982_87820983insTTTATATTTTTTTTTTATTTTTTTTTTTTTTTTTTT	NCBI36
NG_016980.1:g.9055_9056insATAAAAAAAAAATATAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

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