Canonical Allele Identifier: CA1116229642

Gene: CNGB3

Linked Data

• dbSNP Id: rs1821660214
• gnomAD v3: 8-86576235-GTC-G
• gnomAD v4: 8-86576235-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576237_86576238del , CM000670.2:g.86576237_86576238del	GRCh38
NC_000008.10:g.87588465_87588466del , CM000670.1:g.87588465_87588466del	GRCh37
NC_000008.9:g.87657581_87657582del	NCBI36
NG_016980.1:g.172439_172440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2104-107_2104-106del MANE Select	ENSP00000316605.5:n.2104-107_2104-106del
ENST00000681546.1:n.1924-107_1924-106del
ENST00000681746.1:c.*515-107_*515-106del	ENSP00000505959.1:n.*515-107_*515-106del
ENST00000320005.5:c.2104-107_2104-106del	ENSP00000316605.5:n.2104-107_2104-106del
ENST00000517327.5:c.276+2452_276+2453del	ENSP00000428329.1:n.276+2452_276+2453del
NM_019098.4:c.2104-107_2104-106del	NP_061971.3:n.2104-107_2104-106del
XM_011517138.1:c.1690-107_1690-106del	XP_011515440.1:n.1690-107_1690-106del
XM_011517138.2:c.1690-107_1690-106del	XP_011515440.1:n.1690-107_1690-106del
NM_019098.5:c.2104-107_2104-106del MANE Select	NP_061971.3:n.2104-107_2104-106del