Canonical Allele Identifier: CA2649672924

Gene: CRB1

Linked Data

• gnomAD v4: 1-197477559-ACCAGCTTGCTCTGGTTGGTCTTCATTCCTGAGTAGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477563_197477599del , CM000663.2:g.197477563_197477599del	GRCh38
NC_000001.10:g.197446693_197446729del , CM000663.1:g.197446693_197446729del	GRCh37
NC_000001.9:g.195713316_195713352del	NCBI36
NG_008483.1:g.214286_214322del
NG_008483.2:g.281102_281138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4006-101_4006-65del MANE Select	ENSP00000356370.3:n.4006-101_4006-65del
ENST00000367399.6:c.3670-101_3670-65del	ENSP00000356369.2:n.3670-101_3670-65del
ENST00000367400.7:c.4006-101_4006-65del	ENSP00000356370.3:n.4006-101_4006-65del
ENST00000448952.1:c.139_175del	ENSP00000395407.1:n.139_175del
ENST00000484075.5:c.*117-101_*117-65del	ENSP00000433932.1:n.*117-101_*117-65del
ENST00000535699.5:c.3934-101_3934-65del	ENSP00000438786.1:n.3934-101_3934-65del
ENST00000538660.5:c.2398-101_2398-65del	ENSP00000438091.1:n.2398-101_2398-65del
NM_001193640.1:c.3670-101_3670-65del	NP_001180569.1:n.3670-101_3670-65del
NM_001257965.1:c.3934-101_3934-65del	NP_001244894.1:n.3934-101_3934-65del
NM_001257966.1:c.2398-101_2398-65del	NP_001244895.1:n.2398-101_2398-65del
NM_201253.2:c.4006-101_4006-65del	NP_957705.1:n.4006-101_4006-65del
NR_047563.1:n.4007-101_4007-65del
NR_047564.1:n.4457-101_4457-65del
XM_011509366.1:c.*10_*46del	XP_011507668.1:n.*10_*46del
XM_011509367.1:c.3879-101_3879-65del	XP_011507669.1:n.3879-101_3879-65del
XM_011509368.1:c.3424-101_3424-65del	XP_011507670.1:n.3424-101_3424-65del
XM_011509369.1:c.2449-101_2449-65del	XP_011507671.1:n.2449-101_2449-65del
XM_011509369.2:c.2449-101_2449-65del	XP_011507671.1:n.2449-101_2449-65del
XM_017000851.1:c.3163-101_3163-65del	XP_016856340.1:n.3163-101_3163-65del
XM_017000852.1:c.4141-101_4141-65del	XP_016856341.1:n.4141-101_4141-65del
NM_201253.3:c.4006-101_4006-65del MANE Select	NP_957705.1:n.4006-101_4006-65del
NM_001193640.2:c.3670-101_3670-65del	NP_001180569.1:n.3670-101_3670-65del
NM_001257965.2:c.3934-101_3934-65del	NP_001244894.1:n.3934-101_3934-65del
NR_047563.2:n.3959-101_3959-65del
NR_047564.2:n.4409-101_4409-65del
NM_001257966.2:c.2398-101_2398-65del	NP_001244895.1:n.2398-101_2398-65del