Canonical Allele Identifier: CA1010907969

Gene: CRB1

Linked Data

• dbSNP Id: rs1664344105
• gnomAD v3: 1-197421805-GTCTGGCTCA-G
• gnomAD v4: 1-197421805-GTCTGGCTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421808_197421816del , CM000663.2:g.197421808_197421816del	GRCh38
NC_000001.10:g.197390938_197390946del , CM000663.1:g.197390938_197390946del	GRCh37
NC_000001.9:g.195657561_195657569del	NCBI36
NG_008483.1:g.158531_158539del
NG_008483.2:g.225347_225355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1980_1988del MANE Select	ENSP00000356370.3:p.Gly661_Ser663del
ENST00000638467.1:c.1980_1988del	ENSP00000491102.1:p.Gly661_Ser663del
ENST00000681519.1:c.861_869del	ENSP00000505267.1:p.Gly288_Ser290del
ENST00000367397.1:c.123_131del	ENSP00000356367.1:p.Gly42_Ser44del
ENST00000367399.6:c.1644_1652del	ENSP00000356369.2:p.Gly549_Ser551del
ENST00000367400.7:c.1980_1988del	ENSP00000356370.3:p.Gly661_Ser663del
ENST00000484075.5:c.1980_1988del	ENSP00000433932.1:p.Gly661_Ser663del
ENST00000535699.5:c.1773_1781del	ENSP00000438786.1:p.Gly592_Ser594del
ENST00000538660.5:c.1980_1988del	ENSP00000438091.1:p.Gly661_Ser663del
NM_001193640.1:c.1644_1652del	NP_001180569.1:p.Gly549_Ser551del
NM_001257965.1:c.1773_1781del	NP_001244894.1:p.Gly592_Ser594del
NM_001257966.1:c.1980_1988del	NP_001244895.1:p.Gly661_Ser663del
NM_201253.2:c.1980_1988del	NP_957705.1:p.Gly661_Ser663del
NR_047563.1:n.1981_1989del
NR_047564.1:n.2189_2197del
XM_011509365.1:c.1980_1988del	XP_011507667.1:p.Gly661_Ser663del
XM_011509366.1:c.1980_1988del	XP_011507668.1:p.Gly661_Ser663del
XM_011509367.1:c.1980_1988del	XP_011507669.1:p.Gly661_Ser663del
XM_011509368.1:c.1398_1406del	XP_011507670.1:p.Gly467_Ser469del
XM_011509369.1:c.423_431del	XP_011507671.1:p.Gly142_Ser144del
XM_011509365.2:c.1980_1988del	XP_011507667.1:p.Gly661_Ser663del
XM_011509369.2:c.423_431del	XP_011507671.1:p.Gly142_Ser144del
XM_017000851.1:c.1137_1145del	XP_016856340.1:p.Gly380_Ser382del
XM_017000852.1:c.1980_1988del	XP_016856341.1:p.Gly661_Ser663del
NM_201253.3:c.1980_1988del MANE Select	NP_957705.1:p.Gly661_Ser663del
NM_001193640.2:c.1644_1652del	NP_001180569.1:p.Gly549_Ser551del
NM_001257965.2:c.1773_1781del	NP_001244894.1:p.Gly592_Ser594del
NR_047563.2:n.1933_1941del
NR_047564.2:n.2141_2149del
NM_001257966.2:c.1980_1988del	NP_001244895.1:p.Gly661_Ser663del