Canonical Allele Identifier: CA2649670640

Gene: CRB1

Linked Data

• gnomAD v4: 1-197434994-CACTGTCCCAGACCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434995_197435008del , CM000663.2:g.197434995_197435008del	GRCh38
NC_000001.10:g.197404125_197404138del , CM000663.1:g.197404125_197404138del	GRCh37
NC_000001.9:g.195670748_195670761del	NCBI36
NG_008483.1:g.171718_171731del
NG_008483.2:g.238534_238547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3132_3145del MANE Select	ENSP00000356370.3:p.Leu1045GlnfsTer28
ENST00000638467.1:c.3132_3145del	ENSP00000491102.1:p.Leu1045GlnfsTer28
ENST00000681519.1:c.2013_2026del	ENSP00000505267.1:p.Leu672GlnfsTer28
ENST00000367397.1:c.1275_1288del	ENSP00000356367.1:p.Leu426GlnfsTer28
ENST00000367399.6:c.2796_2809del	ENSP00000356369.2:p.Leu933GlnfsTer28
ENST00000367400.7:c.3132_3145del	ENSP00000356370.3:p.Leu1045GlnfsTer28
ENST00000484075.5:c.3132_3145del	ENSP00000433932.1:p.Leu1045GlnfsTer28
ENST00000535699.5:c.3060_3073del	ENSP00000438786.1:p.Leu1021GlnfsTer28
ENST00000538660.5:c.2129-605_2129-592del	ENSP00000438091.1:n.2129-605_2129-592del
NM_001193640.1:c.2796_2809del	NP_001180569.1:p.Leu933GlnfsTer28
NM_001257965.1:c.3060_3073del	NP_001244894.1:p.Leu1021GlnfsTer28
NM_001257966.1:c.2129-605_2129-592del	NP_001244895.1:n.2129-605_2129-592del
NM_201253.2:c.3132_3145del	NP_957705.1:p.Leu1045GlnfsTer28
NR_047563.1:n.3133_3146del
NR_047564.1:n.3341_3354del
XM_011509365.1:c.3132_3145del	XP_011507667.1:p.Leu1045GlnfsTer28
XM_011509366.1:c.3132_3145del	XP_011507668.1:p.Leu1045GlnfsTer28
XM_011509367.1:c.3132_3145del	XP_011507669.1:p.Leu1045GlnfsTer28
XM_011509368.1:c.2550_2563del	XP_011507670.1:p.Leu851GlnfsTer28
XM_011509369.1:c.1575_1588del	XP_011507671.1:p.Leu526GlnfsTer28
XM_011509365.2:c.3132_3145del	XP_011507667.1:p.Leu1045GlnfsTer28
XM_011509369.2:c.1575_1588del	XP_011507671.1:p.Leu526GlnfsTer28
XM_017000851.1:c.2289_2302del	XP_016856340.1:p.Leu764GlnfsTer28
XM_017000852.1:c.3267_3280del	XP_016856341.1:p.Leu1090GlnfsTer28
NM_201253.3:c.3132_3145del MANE Select	NP_957705.1:p.Leu1045GlnfsTer28
NM_001193640.2:c.2796_2809del	NP_001180569.1:p.Leu933GlnfsTer28
NM_001257965.2:c.3060_3073del	NP_001244894.1:p.Leu1021GlnfsTer28
NR_047563.2:n.3085_3098del
NR_047564.2:n.3293_3306del
NM_001257966.2:c.2129-605_2129-592del	NP_001244895.1:n.2129-605_2129-592del