Canonical Allele Identifier: CA1116219128

Gene: CNGB3

Linked Data

• gnomAD v3: 8-86671221-A-ATTTTTT
• gnomAD v4: 8-86671221-A-ATTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671221_86671222insTTTTTT , CM000670.2:g.86671221_86671222insTTTTTT	GRCh38
NC_000008.10:g.87683449_87683450insTTTTTT , CM000670.1:g.87683449_87683450insTTTTTT	GRCh37
NC_000008.9:g.87752565_87752566insTTTTTT	NCBI36
NG_016980.1:g.77454_77455insAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.339-124_339-123insAAAAAA MANE Select	ENSP00000316605.5:n.339-124_339-123insAAAAAA
ENST00000680314.1:n.100-124_100-123insAAAAAA
ENST00000681746.1:c.339-124_339-123insAAAAAA	ENSP00000505959.1:n.339-124_339-123insAAAAAA
ENST00000320005.5:c.339-124_339-123insAAAAAA	ENSP00000316605.5:n.339-124_339-123insAAAAAA
NM_019098.4:c.339-124_339-123insAAAAAA	NP_061971.3:n.339-124_339-123insAAAAAA
XM_011517138.1:c.-76-124_-76-123insAAAAAA	XP_011515440.1:n.-76-124_-76-123insAAAAAA
XM_011517138.2:c.-76-124_-76-123insAAAAAA	XP_011515440.1:n.-76-124_-76-123insAAAAAA
NM_019098.5:c.339-124_339-123insAAAAAA MANE Select	NP_061971.3:n.339-124_339-123insAAAAAA