Canonical Allele Identifier: CA583366222

Gene: CNGB3

Linked Data

• gnomAD v2: 8-87683447-TGAA-T
• gnomAD v3: 8-86671219-TGAA-T
• gnomAD v4: 8-86671219-TGAA-T
• MyVariant Identifiers: chr8:g.87683448_87683450del (hg19) ; chr8:g.86671220_86671222del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671220_86671222del , CM000670.2:g.86671220_86671222del	GRCh38
NC_000008.10:g.87683448_87683450del , CM000670.1:g.87683448_87683450del	GRCh37
NC_000008.9:g.87752564_87752566del	NCBI36
NG_016980.1:g.77454_77456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.339-124_339-122del MANE Select	ENSP00000316605.5:n.339-124_339-122del
ENST00000680314.1:n.100-124_100-122del
ENST00000681746.1:c.339-124_339-122del	ENSP00000505959.1:n.339-124_339-122del
ENST00000320005.5:c.339-124_339-122del	ENSP00000316605.5:n.339-124_339-122del
NM_019098.4:c.339-124_339-122del	NP_061971.3:n.339-124_339-122del
XM_011517138.1:c.-76-124_-76-122del	XP_011515440.1:n.-76-124_-76-122del
XM_011517138.2:c.-76-124_-76-122del	XP_011515440.1:n.-76-124_-76-122del
NM_019098.5:c.339-124_339-122del MANE Select	NP_061971.3:n.339-124_339-122del