Canonical Allele Identifier: CA729754104

Gene: CRB1

Linked Data

• dbSNP Id: rs1227693379
• gnomAD v3: 1-197421800-AT-A
• gnomAD v4: 1-197421800-AT-A
• MyVariant Identifiers: chr1:g.197390931del (hg19) ; chr1:g.197421801del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421801del , CM000663.2:g.197421801del	GRCh38
NC_000001.10:g.197390931del , CM000663.1:g.197390931del	GRCh37
NC_000001.9:g.195657554del	NCBI36
NG_008483.1:g.158524del
NG_008483.2:g.225340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1973del MANE Select	ENSP00000356370.3:p.Ile658ThrfsTer7
ENST00000638467.1:c.1973del	ENSP00000491102.1:p.Ile658ThrfsTer7
ENST00000681519.1:c.854del	ENSP00000505267.1:p.Ile285ThrfsTer7
ENST00000367397.1:c.116del	ENSP00000356367.1:p.Ile39ThrfsTer7
ENST00000367399.6:c.1637del	ENSP00000356369.2:p.Ile546ThrfsTer7
ENST00000367400.7:c.1973del	ENSP00000356370.3:p.Ile658ThrfsTer7
ENST00000484075.5:c.1973del	ENSP00000433932.1:p.Ile658ThrfsTer7
ENST00000535699.5:c.1766del	ENSP00000438786.1:p.Ile589ThrfsTer7
ENST00000538660.5:c.1973del	ENSP00000438091.1:p.Ile658ThrfsTer7
NM_001193640.1:c.1637del	NP_001180569.1:p.Ile546ThrfsTer7
NM_001257965.1:c.1766del	NP_001244894.1:p.Ile589ThrfsTer7
NM_001257966.1:c.1973del	NP_001244895.1:p.Ile658ThrfsTer7
NM_201253.2:c.1973del	NP_957705.1:p.Ile658ThrfsTer7
NR_047563.1:n.1974del
NR_047564.1:n.2182del
XM_011509365.1:c.1973del	XP_011507667.1:p.Ile658ThrfsTer7
XM_011509366.1:c.1973del	XP_011507668.1:p.Ile658ThrfsTer7
XM_011509367.1:c.1973del	XP_011507669.1:p.Ile658ThrfsTer7
XM_011509368.1:c.1391del	XP_011507670.1:p.Ile464ThrfsTer7
XM_011509369.1:c.416del	XP_011507671.1:p.Ile139ThrfsTer7
XM_011509365.2:c.1973del	XP_011507667.1:p.Ile658ThrfsTer7
XM_011509369.2:c.416del	XP_011507671.1:p.Ile139ThrfsTer7
XM_017000851.1:c.1130del	XP_016856340.1:p.Ile377ThrfsTer7
XM_017000852.1:c.1973del	XP_016856341.1:p.Ile658ThrfsTer7
NM_201253.3:c.1973del MANE Select	NP_957705.1:p.Ile658ThrfsTer7
NM_001193640.2:c.1637del	NP_001180569.1:p.Ile546ThrfsTer7
NM_001257965.2:c.1766del	NP_001244894.1:p.Ile589ThrfsTer7
NR_047563.2:n.1926del
NR_047564.2:n.2134del
NM_001257966.2:c.1973del	NP_001244895.1:p.Ile658ThrfsTer7