Canonical Allele Identifier: CA729762531

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1068576
• ClinVar RCV Id: RCV001380183
• dbSNP Id: rs1290879180
• gnomAD v3: 1-197434803-CAG-C
• gnomAD v4: 1-197434803-CAG-C
• MyVariant Identifiers: chr1:g.197403934_197403935del (hg19) ; chr1:g.197434804_197434805del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434805_197434806del , CM000663.2:g.197434805_197434806del	GRCh38
NC_000001.10:g.197403935_197403936del , CM000663.1:g.197403935_197403936del	GRCh37
NC_000001.9:g.195670558_195670559del	NCBI36
NG_008483.1:g.171528_171529del
NG_008483.2:g.238344_238345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2942_2943del MANE Select	ENSP00000356370.3:p.Arg981AsnfsTer16
ENST00000638467.1:c.2942_2943del	ENSP00000491102.1:p.Arg981AsnfsTer16
ENST00000681519.1:c.1823_1824del	ENSP00000505267.1:p.Arg608AsnfsTer16
ENST00000367397.1:c.1085_1086del	ENSP00000356367.1:p.Arg362AsnfsTer16
ENST00000367399.6:c.2606_2607del	ENSP00000356369.2:p.Arg869AsnfsTer16
ENST00000367400.7:c.2942_2943del	ENSP00000356370.3:p.Arg981AsnfsTer16
ENST00000484075.5:c.2942_2943del	ENSP00000433932.1:p.Arg981AsnfsTer16
ENST00000535699.5:c.2870_2871del	ENSP00000438786.1:p.Arg957AsnfsTer16
ENST00000538660.5:c.2129-795_2129-794del	ENSP00000438091.1:n.2129-795_2129-794del
NM_001193640.1:c.2606_2607del	NP_001180569.1:p.Arg869AsnfsTer16
NM_001257965.1:c.2870_2871del	NP_001244894.1:p.Arg957AsnfsTer16
NM_001257966.1:c.2129-795_2129-794del	NP_001244895.1:n.2129-795_2129-794del
NM_201253.2:c.2942_2943del	NP_957705.1:p.Arg981AsnfsTer16
NR_047563.1:n.2943_2944del
NR_047564.1:n.3151_3152del
XM_011509365.1:c.2942_2943del	XP_011507667.1:p.Arg981AsnfsTer16
XM_011509366.1:c.2942_2943del	XP_011507668.1:p.Arg981AsnfsTer16
XM_011509367.1:c.2942_2943del	XP_011507669.1:p.Arg981AsnfsTer16
XM_011509368.1:c.2360_2361del	XP_011507670.1:p.Arg787AsnfsTer16
XM_011509369.1:c.1385_1386del	XP_011507671.1:p.Arg462AsnfsTer16
XM_011509365.2:c.2942_2943del	XP_011507667.1:p.Arg981AsnfsTer16
XM_011509369.2:c.1385_1386del	XP_011507671.1:p.Arg462AsnfsTer16
XM_017000851.1:c.2099_2100del	XP_016856340.1:p.Arg700AsnfsTer16
XM_017000852.1:c.3077_3078del	XP_016856341.1:p.Arg1026AsnfsTer16
NM_201253.3:c.2942_2943del MANE Select	NP_957705.1:p.Arg981AsnfsTer16
NM_001193640.2:c.2606_2607del	NP_001180569.1:p.Arg869AsnfsTer16
NM_001257965.2:c.2870_2871del	NP_001244894.1:p.Arg957AsnfsTer16
NR_047563.2:n.2895_2896del
NR_047564.2:n.3103_3104del
NM_001257966.2:c.2129-795_2129-794del	NP_001244895.1:n.2129-795_2129-794del