Canonical Allele Identifier: CA2687823753

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86578883-GCTGTTTTAGGTAACT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86578888_86578902del , CM000670.2:g.86578888_86578902del	GRCh38
NC_000008.10:g.87591116_87591130del , CM000670.1:g.87591116_87591130del	GRCh37
NC_000008.9:g.87660232_87660246del	NCBI36
NG_016980.1:g.169778_169792del

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1929-35_1929-21del MANE Select	ENSP00000316605.5:n.1929-35_1929-21del
ENST00000681546.1:n.1749-35_1749-21del
ENST00000681746.1:c.*340-35_*340-21del	ENSP00000505959.1:n.*340-35_*340-21del
ENST00000320005.5:c.1929-35_1929-21del	ENSP00000316605.5:n.1929-35_1929-21del
ENST00000517327.5:c.102-35_102-21del	ENSP00000428329.1:n.102-35_102-21del
NM_019098.4:c.1929-35_1929-21del	NP_061971.3:n.1929-35_1929-21del
XM_011517138.1:c.1515-35_1515-21del	XP_011515440.1:n.1515-35_1515-21del
XM_011517138.2:c.1515-35_1515-21del	XP_011515440.1:n.1515-35_1515-21del
NM_019098.5:c.1929-35_1929-21del MANE Select	NP_061971.3:n.1929-35_1929-21del