Canonical Allele Identifier: CA2781156457

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671132_86671144del , CM000670.2:g.86671132_86671144del	GRCh38
NC_000008.10:g.87683360_87683372del , CM000670.1:g.87683360_87683372del	GRCh37
NC_000008.9:g.87752476_87752488del	NCBI36
NG_016980.1:g.77532_77544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.339-46_339-34del MANE Select	ENSP00000316605.5:n.339-46_339-34del
ENST00000680314.1:n.100-46_100-34del
ENST00000681746.1:c.339-46_339-34del	ENSP00000505959.1:n.339-46_339-34del
ENST00000320005.5:c.339-46_339-34del	ENSP00000316605.5:n.339-46_339-34del
NM_019098.4:c.339-46_339-34del	NP_061971.3:n.339-46_339-34del
XM_011517138.1:c.-76-46_-76-34del	XP_011515440.1:n.-76-46_-76-34del
XM_011517138.2:c.-76-46_-76-34del	XP_011515440.1:n.-76-46_-76-34del
NM_019098.5:c.339-46_339-34del MANE Select	NP_061971.3:n.339-46_339-34del