Canonical Allele Identifier: CA2781156516

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671183_86671185del , CM000670.2:g.86671183_86671185del	GRCh38
NC_000008.10:g.87683411_87683413del , CM000670.1:g.87683411_87683413del	GRCh37
NC_000008.9:g.87752527_87752529del	NCBI36
NG_016980.1:g.77491_77493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.339-87_339-85del MANE Select	ENSP00000316605.5:n.339-87_339-85del
ENST00000680314.1:n.100-87_100-85del
ENST00000681746.1:c.339-87_339-85del	ENSP00000505959.1:n.339-87_339-85del
ENST00000320005.5:c.339-87_339-85del	ENSP00000316605.5:n.339-87_339-85del
NM_019098.4:c.339-87_339-85del	NP_061971.3:n.339-87_339-85del
XM_011517138.1:c.-76-87_-76-85del	XP_011515440.1:n.-76-87_-76-85del
XM_011517138.2:c.-76-87_-76-85del	XP_011515440.1:n.-76-87_-76-85del
NM_019098.5:c.339-87_339-85del MANE Select	NP_061971.3:n.339-87_339-85del