Canonical Allele Identifier: CA227986

Gene: CRB1

Linked Data

• ClinVar Variation Id: 99865
• ClinVar RCV Id: RCV000086303 ; RCV001854502 ; RCV003474689
• dbSNP Id: rs62645750
• ExAC: 1:197297591 AT / A
• gnomAD v2: 1-197297591-AT-A
• gnomAD v3: 1-197328461-AT-A
• gnomAD v4: 1-197328461-AT-A
• MyVariant Identifiers: chr1:g.197297592del (hg19) ; chr1:g.197328462del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197328463del , CM000663.2:g.197328463del	GRCh38
NC_000001.10:g.197297593del , CM000663.1:g.197297593del	GRCh37
NC_000001.9:g.195564216del	NCBI36
NG_008483.1:g.65186del
NG_008483.2:g.132002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.112del MANE Select	ENSP00000356370.3:p.Ser38LeufsTer?
ENST00000638467.1:c.112del	ENSP00000491102.1:p.Ser38LeufsTer?
ENST00000367399.6:c.112del	ENSP00000356369.2:p.Ser38LeufsTer?
ENST00000367400.7:c.112del	ENSP00000356370.3:p.Ser38LeufsTer?
ENST00000475659.1:n.249del
ENST00000484075.5:c.112del	ENSP00000433932.1:p.Ser38LeufsTer?
ENST00000535699.5:c.-96del	ENSP00000438786.1:n.-96del
ENST00000538660.5:c.112del	ENSP00000438091.1:p.Ser38LeufsTer?
NM_001193640.1:c.112del	NP_001180569.1:p.Ser38LeufsTer?
NM_001257965.1:c.-96del	NP_001244894.1:n.-96del
NM_001257966.1:c.112del	NP_001244895.1:p.Ser38LeufsTer?
NM_201253.2:c.112del	NP_957705.1:p.Ser38LeufsTer?
NR_047563.1:n.321del
NR_047564.1:n.321del
XM_011509365.1:c.112del	XP_011507667.1:p.Ser38LeufsTer?
XM_011509366.1:c.112del	XP_011507668.1:p.Ser38LeufsTer?
XM_011509367.1:c.112del	XP_011507669.1:p.Ser38LeufsTer?
XM_011509368.1:c.71-15818del	XP_011507670.1:n.71-15818del
XM_011509365.2:c.112del	XP_011507667.1:p.Ser38LeufsTer?
XM_017000851.1:c.-592del	XP_016856340.1:n.-592del
XM_017000852.1:c.112del	XP_016856341.1:p.Ser38LeufsTer?
NM_201253.3:c.112del MANE Select	NP_957705.1:p.Ser38LeufsTer?
NM_001193640.2:c.112del	NP_001180569.1:p.Ser38LeufsTer?
NM_001257965.2:c.-96del	NP_001244894.1:n.-96del
NR_047563.2:n.273del
NR_047564.2:n.273del
NM_001257966.2:c.112del	NP_001244895.1:p.Ser38LeufsTer?