Canonical Allele Identifier: CA528535518

Gene: CRB1

Linked Data

• dbSNP Id: rs1405638103
• gnomAD v2: 1-197446721-GTAGTTCCATTGTCCTGAA-G
• gnomAD v4: 1-197477591-GTAGTTCCATTGTCCTGAA-G
• MyVariant Identifiers: chr1:g.197446722_197446739del (hg19) ; chr1:g.197477592_197477609del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477594_197477611del , CM000663.2:g.197477594_197477611del	GRCh38
NC_000001.10:g.197446724_197446741del , CM000663.1:g.197446724_197446741del	GRCh37
NC_000001.9:g.195713347_195713364del	NCBI36
NG_008483.1:g.214317_214334del
NG_008483.2:g.281133_281150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4006-70_4006-53del MANE Select	ENSP00000356370.3:n.4006-70_4006-53del
ENST00000367399.6:c.3670-70_3670-53del	ENSP00000356369.2:n.3670-70_3670-53del
ENST00000367400.7:c.4006-70_4006-53del	ENSP00000356370.3:n.4006-70_4006-53del
ENST00000448952.1:c.170_187del	ENSP00000395407.1:n.170_187del
ENST00000484075.5:c.*117-70_*117-53del	ENSP00000433932.1:n.*117-70_*117-53del
ENST00000535699.5:c.3934-70_3934-53del	ENSP00000438786.1:n.3934-70_3934-53del
ENST00000538660.5:c.2398-70_2398-53del	ENSP00000438091.1:n.2398-70_2398-53del
NM_001193640.1:c.3670-70_3670-53del	NP_001180569.1:n.3670-70_3670-53del
NM_001257965.1:c.3934-70_3934-53del	NP_001244894.1:n.3934-70_3934-53del
NM_001257966.1:c.2398-70_2398-53del	NP_001244895.1:n.2398-70_2398-53del
NM_201253.2:c.4006-70_4006-53del	NP_957705.1:n.4006-70_4006-53del
NR_047563.1:n.4007-70_4007-53del
NR_047564.1:n.4457-70_4457-53del
XM_011509366.1:c.*41_*58del	XP_011507668.1:n.*41_*58del
XM_011509367.1:c.3879-70_3879-53del	XP_011507669.1:n.3879-70_3879-53del
XM_011509368.1:c.3424-70_3424-53del	XP_011507670.1:n.3424-70_3424-53del
XM_011509369.1:c.2449-70_2449-53del	XP_011507671.1:n.2449-70_2449-53del
XM_011509369.2:c.2449-70_2449-53del	XP_011507671.1:n.2449-70_2449-53del
XM_017000851.1:c.3163-70_3163-53del	XP_016856340.1:n.3163-70_3163-53del
XM_017000852.1:c.4141-70_4141-53del	XP_016856341.1:n.4141-70_4141-53del
NM_201253.3:c.4006-70_4006-53del MANE Select	NP_957705.1:n.4006-70_4006-53del
NM_001193640.2:c.3670-70_3670-53del	NP_001180569.1:n.3670-70_3670-53del
NM_001257965.2:c.3934-70_3934-53del	NP_001244894.1:n.3934-70_3934-53del
NR_047563.2:n.3959-70_3959-53del
NR_047564.2:n.4409-70_4409-53del
NM_001257966.2:c.2398-70_2398-53del	NP_001244895.1:n.2398-70_2398-53del