Canonical Allele Identifier: CA2649673076

Gene: CRB1

Linked Data

• gnomAD v4: 1-197478073-AGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197478074_197478076del , CM000663.2:g.197478074_197478076del	GRCh38
NC_000001.10:g.197447204_197447206del , CM000663.1:g.197447204_197447206del	GRCh37
NC_000001.9:g.195713827_195713829del	NCBI36
NG_008483.1:g.214797_214799del
NG_008483.2:g.281613_281615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*195_*197del MANE Select	ENSP00000356370.3:n.*195_*197del
ENST00000367400.7:c.*195_*197del	ENSP00000356370.3:n.*195_*197del
ENST00000448952.1:c.650_652del	ENSP00000395407.1:n.650_652del
ENST00000484075.5:c.*527_*529del	ENSP00000433932.1:n.*527_*529del
ENST00000535699.5:c.*195_*197del	ENSP00000438786.1:n.*195_*197del
ENST00000538660.5:c.*195_*197del	ENSP00000438091.1:n.*195_*197del
NM_001193640.1:c.*195_*197del	NP_001180569.1:n.*195_*197del
NM_001257965.1:c.*195_*197del	NP_001244894.1:n.*195_*197del
NM_001257966.1:c.*195_*197del	NP_001244895.1:n.*195_*197del
NM_201253.2:c.*195_*197del	NP_957705.1:n.*195_*197del
NR_047563.1:n.4417_4419del
NR_047564.1:n.4867_4869del
XM_011509366.1:c.*521_*523del	XP_011507668.1:n.*521_*523del
XM_011509367.1:c.*395_*397del	XP_011507669.1:n.*395_*397del
XM_011509368.1:c.*195_*197del	XP_011507670.1:n.*195_*197del
XM_011509369.1:c.*195_*197del	XP_011507671.1:n.*195_*197del
XM_011509369.2:c.*195_*197del	XP_011507671.1:n.*195_*197del
XM_017000851.1:c.*195_*197del	XP_016856340.1:n.*195_*197del
XM_017000852.1:c.*195_*197del	XP_016856341.1:n.*195_*197del
NM_201253.3:c.*195_*197del MANE Select	NP_957705.1:n.*195_*197del
NM_001193640.2:c.*195_*197del	NP_001180569.1:n.*195_*197del
NM_001257965.2:c.*195_*197del	NP_001244894.1:n.*195_*197del
NR_047563.2:n.4369_4371del
NR_047564.2:n.4819_4821del
NM_001257966.2:c.*195_*197del	NP_001244895.1:n.*195_*197del