Canonical Allele Identifier: CA1010919516

Gene: CRB1

Linked Data

• gnomAD v3: 1-197477888-TGTCCC-T
• gnomAD v4: 1-197477888-TGTCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477889_197477893del , CM000663.2:g.197477889_197477893del	GRCh38
NC_000001.10:g.197447019_197447023del , CM000663.1:g.197447019_197447023del	GRCh37
NC_000001.9:g.195713642_195713646del	NCBI36
NG_008483.1:g.214612_214616del
NG_008483.2:g.281428_281432del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*10_*14del MANE Select	ENSP00000356370.3:n.*10_*14del
ENST00000367400.7:c.*10_*14del	ENSP00000356370.3:n.*10_*14del
ENST00000448952.1:c.465_469del	ENSP00000395407.1:n.465_469del
ENST00000484075.5:c.*342_*346del	ENSP00000433932.1:n.*342_*346del
ENST00000535699.5:c.*10_*14del	ENSP00000438786.1:n.*10_*14del
ENST00000538660.5:c.*10_*14del	ENSP00000438091.1:n.*10_*14del
NM_001193640.1:c.*10_*14del	NP_001180569.1:n.*10_*14del
NM_001257965.1:c.*10_*14del	NP_001244894.1:n.*10_*14del
NM_001257966.1:c.*10_*14del	NP_001244895.1:n.*10_*14del
NM_201253.2:c.*10_*14del	NP_957705.1:n.*10_*14del
NR_047563.1:n.4232_4236del
NR_047564.1:n.4682_4686del
XM_011509366.1:c.*336_*340del	XP_011507668.1:n.*336_*340del
XM_011509367.1:c.*210_*214del	XP_011507669.1:n.*210_*214del
XM_011509368.1:c.*10_*14del	XP_011507670.1:n.*10_*14del
XM_011509369.1:c.*10_*14del	XP_011507671.1:n.*10_*14del
XM_011509369.2:c.*10_*14del	XP_011507671.1:n.*10_*14del
XM_017000851.1:c.*10_*14del	XP_016856340.1:n.*10_*14del
XM_017000852.1:c.*10_*14del	XP_016856341.1:n.*10_*14del
NM_201253.3:c.*10_*14del MANE Select	NP_957705.1:n.*10_*14del
NM_001193640.2:c.*10_*14del	NP_001180569.1:n.*10_*14del
NM_001257965.2:c.*10_*14del	NP_001244894.1:n.*10_*14del
NR_047563.2:n.4184_4188del
NR_047564.2:n.4634_4638del
NM_001257966.2:c.*10_*14del	NP_001244895.1:n.*10_*14del