Canonical Allele Identifier: CA2740212403

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197478083_197478089dup , CM000663.2:g.197478083_197478089dup	GRCh38
NC_000001.10:g.197447213_197447219dup , CM000663.1:g.197447213_197447219dup	GRCh37
NC_000001.9:g.195713836_195713842dup	NCBI36
NG_008483.1:g.214806_214812dup
NG_008483.2:g.281622_281628dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*204_*210dup MANE Select	ENSP00000356370.3:n.*204_*210dup
ENST00000367400.7:c.*204_*210dup	ENSP00000356370.3:n.*204_*210dup
ENST00000448952.1:c.659_665dup	ENSP00000395407.1:n.659_665dup
ENST00000484075.5:c.*536_*542dup	ENSP00000433932.1:n.*536_*542dup
ENST00000535699.5:c.*204_*210dup	ENSP00000438786.1:n.*204_*210dup
ENST00000538660.5:c.*204_*210dup	ENSP00000438091.1:n.*204_*210dup
NM_001193640.1:c.*204_*210dup	NP_001180569.1:n.*204_*210dup
NM_001257965.1:c.*204_*210dup	NP_001244894.1:n.*204_*210dup
NM_001257966.1:c.*204_*210dup	NP_001244895.1:n.*204_*210dup
NM_201253.2:c.*204_*210dup	NP_957705.1:n.*204_*210dup
NR_047563.1:n.4426_4432dup
NR_047564.1:n.4876_4882dup
XM_011509366.1:c.*530_*536dup	XP_011507668.1:n.*530_*536dup
XM_011509367.1:c.*404_*410dup	XP_011507669.1:n.*404_*410dup
XM_011509368.1:c.*204_*210dup	XP_011507670.1:n.*204_*210dup
XM_011509369.1:c.*204_*210dup	XP_011507671.1:n.*204_*210dup
XM_011509369.2:c.*204_*210dup	XP_011507671.1:n.*204_*210dup
XM_017000851.1:c.*204_*210dup	XP_016856340.1:n.*204_*210dup
XM_017000852.1:c.*204_*210dup	XP_016856341.1:n.*204_*210dup
NM_201253.3:c.*204_*210dup MANE Select	NP_957705.1:n.*204_*210dup
NM_001193640.2:c.*204_*210dup	NP_001180569.1:n.*204_*210dup
NM_001257965.2:c.*204_*210dup	NP_001244894.1:n.*204_*210dup
NR_047563.2:n.4378_4384dup
NR_047564.2:n.4828_4834dup
NM_001257966.2:c.*204_*210dup	NP_001244895.1:n.*204_*210dup