Canonical Allele Identifier: CA2781156148

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86667136_86667137del , CM000670.2:g.86667136_86667137del	GRCh38
NC_000008.10:g.87679364_87679365del , CM000670.1:g.87679364_87679365del	GRCh37
NC_000008.9:g.87748480_87748481del	NCBI36
NG_016980.1:g.81539_81540del

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.644-4_644-3del MANE Select	ENSP00000316605.5:n.644-4_644-3del
ENST00000681746.1:c.644-4_644-3del	ENSP00000505959.1:n.644-4_644-3del
ENST00000320005.5:c.644-4_644-3del	ENSP00000316605.5:n.644-4_644-3del
NM_019098.4:c.644-4_644-3del	NP_061971.3:n.644-4_644-3del
XM_011517138.1:c.230-4_230-3del	XP_011515440.1:n.230-4_230-3del
XM_011517138.2:c.230-4_230-3del	XP_011515440.1:n.230-4_230-3del
NM_019098.5:c.644-4_644-3del MANE Select	NP_061971.3:n.644-4_644-3del