Canonical Allele Identifier: CA10581625
Gene: CRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197344435dup , CM000663.2:g.197344435dup GRCh38
NC_000001.10:g.197313565dup , CM000663.1:g.197313565dup GRCh37
NC_000001.9:g.195580188dup NCBI36
NG_008483.1:g.81158dup
NG_008483.2:g.147974dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.807dup MANE Select ENSP00000356370.3:p.Pro270ThrfsTer16
ENST00000638467.1:c.807dup ENSP00000491102.1:p.Pro270ThrfsTer16
ENST00000367399.6:c.653-12396dup ENSP00000356369.2:n.653-12396dup
ENST00000367400.7:c.807dup ENSP00000356370.3:p.Pro270ThrfsTer16
ENST00000475659.1:n.944dup
ENST00000484075.5:c.807dup ENSP00000433932.1:p.Pro270ThrfsTer16
ENST00000535699.5:c.600dup ENSP00000438786.1:p.Pro201ThrfsTer16
ENST00000538660.5:c.807dup ENSP00000438091.1:p.Pro270ThrfsTer16
NM_001193640.1:c.653-12396dup NP_001180569.1:n.653-12396dup
NM_001257965.1:c.600dup NP_001244894.1:p.Pro201ThrfsTer16
NM_001257966.1:c.807dup NP_001244895.1:p.Pro270ThrfsTer16
NM_201253.2:c.807dup NP_957705.1:p.Pro270ThrfsTer16
NR_047563.1:n.1016dup
NR_047564.1:n.1016dup
XM_011509365.1:c.807dup XP_011507667.1:p.Pro270ThrfsTer16
XM_011509366.1:c.807dup XP_011507668.1:p.Pro270ThrfsTer16
XM_011509367.1:c.807dup XP_011507669.1:p.Pro270ThrfsTer16
XM_011509368.1:c.225dup XP_011507670.1:p.Pro76ThrfsTer16
XM_011509365.2:c.807dup XP_011507667.1:p.Pro270ThrfsTer16
XM_017000851.1:c.104dup XP_016856340.1:p.Asn35LysfsTer22
XM_017000852.1:c.807dup XP_016856341.1:p.Pro270ThrfsTer16
NM_201253.3:c.807dup MANE Select NP_957705.1:p.Pro270ThrfsTer16
NM_001193640.2:c.653-12396dup NP_001180569.1:n.653-12396dup
NM_001257965.2:c.600dup NP_001244894.1:p.Pro201ThrfsTer16
NR_047563.2:n.968dup
NR_047564.2:n.968dup
NM_001257966.2:c.807dup NP_001244895.1:p.Pro270ThrfsTer16