Canonical Allele Identifier: CA2781158406

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739766_86739774del , CM000670.2:g.86739766_86739774del	GRCh38
NC_000008.10:g.87751994_87752002del , CM000670.1:g.87751994_87752002del	GRCh37
NC_000008.9:g.87821110_87821118del	NCBI36
NG_016980.1:g.8903_8911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.130-37_130-29del MANE Select	ENSP00000316605.5:n.130-37_130-29del
ENST00000681746.1:c.130-37_130-29del	ENSP00000505959.1:n.130-37_130-29del
ENST00000320005.5:c.130-37_130-29del	ENSP00000316605.5:n.130-37_130-29del
ENST00000519777.1:n.112-37_112-29del
NM_019098.4:c.130-37_130-29del	NP_061971.3:n.130-37_130-29del
NM_019098.5:c.130-37_130-29del MANE Select	NP_061971.3:n.130-37_130-29del