Canonical Allele Identifier: CA2649672895

Gene: CRB1

Linked Data

• gnomAD v4: 1-197477513-TCTGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477516_197477519del , CM000663.2:g.197477516_197477519del	GRCh38
NC_000001.10:g.197446646_197446649del , CM000663.1:g.197446646_197446649del	GRCh37
NC_000001.9:g.195713269_195713272del	NCBI36
NG_008483.1:g.214239_214242del
NG_008483.2:g.281055_281058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4006-148_4006-145del MANE Select	ENSP00000356370.3:n.4006-148_4006-145del
ENST00000367399.6:c.3670-148_3670-145del	ENSP00000356369.2:n.3670-148_3670-145del
ENST00000367400.7:c.4006-148_4006-145del	ENSP00000356370.3:n.4006-148_4006-145del
ENST00000448952.1:c.124-32_124-29del	ENSP00000395407.1:n.124-32_124-29del
ENST00000484075.5:c.*117-148_*117-145del	ENSP00000433932.1:n.*117-148_*117-145del
ENST00000535699.5:c.3934-148_3934-145del	ENSP00000438786.1:n.3934-148_3934-145del
ENST00000538660.5:c.2398-148_2398-145del	ENSP00000438091.1:n.2398-148_2398-145del
NM_001193640.1:c.3670-148_3670-145del	NP_001180569.1:n.3670-148_3670-145del
NM_001257965.1:c.3934-148_3934-145del	NP_001244894.1:n.3934-148_3934-145del
NM_001257966.1:c.2398-148_2398-145del	NP_001244895.1:n.2398-148_2398-145del
NM_201253.2:c.4006-148_4006-145del	NP_957705.1:n.4006-148_4006-145del
NR_047563.1:n.4007-148_4007-145del
NR_047564.1:n.4457-148_4457-145del
XM_011509366.1:c.4006-32_4006-29del	XP_011507668.1:n.4006-32_4006-29del
XM_011509367.1:c.3879-148_3879-145del	XP_011507669.1:n.3879-148_3879-145del
XM_011509368.1:c.3424-148_3424-145del	XP_011507670.1:n.3424-148_3424-145del
XM_011509369.1:c.2449-148_2449-145del	XP_011507671.1:n.2449-148_2449-145del
XM_011509369.2:c.2449-148_2449-145del	XP_011507671.1:n.2449-148_2449-145del
XM_017000851.1:c.3163-148_3163-145del	XP_016856340.1:n.3163-148_3163-145del
XM_017000852.1:c.4141-148_4141-145del	XP_016856341.1:n.4141-148_4141-145del
NM_201253.3:c.4006-148_4006-145del MANE Select	NP_957705.1:n.4006-148_4006-145del
NM_001193640.2:c.3670-148_3670-145del	NP_001180569.1:n.3670-148_3670-145del
NM_001257965.2:c.3934-148_3934-145del	NP_001244894.1:n.3934-148_3934-145del
NR_047563.2:n.3959-148_3959-145del
NR_047564.2:n.4409-148_4409-145del
NM_001257966.2:c.2398-148_2398-145del	NP_001244895.1:n.2398-148_2398-145del