Canonical Allele Identifier: CA2649670639

Gene: CRB1

Linked Data

• gnomAD v4: 1-197434931-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434932del , CM000663.2:g.197434932del	GRCh38
NC_000001.10:g.197404062del , CM000663.1:g.197404062del	GRCh37
NC_000001.9:g.195670685del	NCBI36
NG_008483.1:g.171655del
NG_008483.2:g.238471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3069del MANE Select	ENSP00000356370.3:p.Thr1024GlnfsTer6
ENST00000638467.1:c.3069del	ENSP00000491102.1:p.Thr1024GlnfsTer6
ENST00000681519.1:c.1950del	ENSP00000505267.1:p.Thr651GlnfsTer6
ENST00000367397.1:c.1212del	ENSP00000356367.1:p.Thr405GlnfsTer6
ENST00000367399.6:c.2733del	ENSP00000356369.2:p.Thr912GlnfsTer6
ENST00000367400.7:c.3069del	ENSP00000356370.3:p.Thr1024GlnfsTer6
ENST00000484075.5:c.3069del	ENSP00000433932.1:p.Thr1024GlnfsTer6
ENST00000535699.5:c.2997del	ENSP00000438786.1:p.Thr1000GlnfsTer6
ENST00000538660.5:c.2129-668del	ENSP00000438091.1:n.2129-668del
NM_001193640.1:c.2733del	NP_001180569.1:p.Thr912GlnfsTer6
NM_001257965.1:c.2997del	NP_001244894.1:p.Thr1000GlnfsTer6
NM_001257966.1:c.2129-668del	NP_001244895.1:n.2129-668del
NM_201253.2:c.3069del	NP_957705.1:p.Thr1024GlnfsTer6
NR_047563.1:n.3070del
NR_047564.1:n.3278del
XM_011509365.1:c.3069del	XP_011507667.1:p.Thr1024GlnfsTer6
XM_011509366.1:c.3069del	XP_011507668.1:p.Thr1024GlnfsTer6
XM_011509367.1:c.3069del	XP_011507669.1:p.Thr1024GlnfsTer6
XM_011509368.1:c.2487del	XP_011507670.1:p.Thr830GlnfsTer6
XM_011509369.1:c.1512del	XP_011507671.1:p.Thr505GlnfsTer6
XM_011509365.2:c.3069del	XP_011507667.1:p.Thr1024GlnfsTer6
XM_011509369.2:c.1512del	XP_011507671.1:p.Thr505GlnfsTer6
XM_017000851.1:c.2226del	XP_016856340.1:p.Thr743GlnfsTer6
XM_017000852.1:c.3204del	XP_016856341.1:p.Thr1069GlnfsTer6
NM_201253.3:c.3069del MANE Select	NP_957705.1:p.Thr1024GlnfsTer6
NM_001193640.2:c.2733del	NP_001180569.1:p.Thr912GlnfsTer6
NM_001257965.2:c.2997del	NP_001244894.1:p.Thr1000GlnfsTer6
NR_047563.2:n.3022del
NR_047564.2:n.3230del
NM_001257966.2:c.2129-668del	NP_001244895.1:n.2129-668del