Canonical Allele Identifier: CA2781156580

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671263_86671266del , CM000670.2:g.86671263_86671266del	GRCh38
NC_000008.10:g.87683491_87683494del , CM000670.1:g.87683491_87683494del	GRCh37
NC_000008.9:g.87752607_87752610del	NCBI36
NG_016980.1:g.77411_77414del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.339-167_339-164del MANE Select	ENSP00000316605.5:n.339-167_339-164del
ENST00000680314.1:n.100-167_100-164del
ENST00000681746.1:c.339-167_339-164del	ENSP00000505959.1:n.339-167_339-164del
ENST00000320005.5:c.339-167_339-164del	ENSP00000316605.5:n.339-167_339-164del
NM_019098.4:c.339-167_339-164del	NP_061971.3:n.339-167_339-164del
XM_011517138.1:c.-76-167_-76-164del	XP_011515440.1:n.-76-167_-76-164del
XM_011517138.2:c.-76-167_-76-164del	XP_011515440.1:n.-76-167_-76-164del
NM_019098.5:c.339-167_339-164del MANE Select	NP_061971.3:n.339-167_339-164del