Canonical Allele Identifier: CA2781156501

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671177_86671190del , CM000670.2:g.86671177_86671190del	GRCh38
NC_000008.10:g.87683405_87683418del , CM000670.1:g.87683405_87683418del	GRCh37
NC_000008.9:g.87752521_87752534del	NCBI36
NG_016980.1:g.77486_77499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.339-92_339-79del MANE Select	ENSP00000316605.5:n.339-92_339-79del
ENST00000680314.1:n.100-92_100-79del
ENST00000681746.1:c.339-92_339-79del	ENSP00000505959.1:n.339-92_339-79del
ENST00000320005.5:c.339-92_339-79del	ENSP00000316605.5:n.339-92_339-79del
NM_019098.4:c.339-92_339-79del	NP_061971.3:n.339-92_339-79del
XM_011517138.1:c.-76-92_-76-79del	XP_011515440.1:n.-76-92_-76-79del
XM_011517138.2:c.-76-92_-76-79del	XP_011515440.1:n.-76-92_-76-79del
NM_019098.5:c.339-92_339-79del MANE Select	NP_061971.3:n.339-92_339-79del