Canonical Allele Identifier: CA2695211166

Gene: CRB2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123373787_123373804delinsCGGCCCGGGGTGG , CM000671.2:g.123373787_123373804delinsCGGCCCGGGGTGG	GRCh38
NC_000009.11:g.126136066_126136083delinsCGGCCCGGGGTGG , CM000671.1:g.126136066_126136083delinsCGGCCCGGGGTGG	GRCh37
NC_000009.10:g.125175887_125175904delinsCGGCCCGGGGTGG	NCBI36
NG_051311.1:g.24723_24740delinsCGGCCCGGGGTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000373631.8:c.3256_3273delinsCGGCCCGGGGTGG MANE Select	ENSP00000362734.3:p.Trp1086ArgfsTer?
ENST00000359999.7:c.3256_3273delinsCGGCCCGGGGTGG	ENSP00000353092.3:p.Trp1086ArgfsTer?
ENST00000373631.7:c.3256_3273delinsCGGCCCGGGGTGG	ENSP00000362734.3:p.Trp1086ArgfsTer?
ENST00000460253.1:c.2260_2277delinsCGGCCCGGGGTGG	ENSP00000435279.1:p.Trp754ArgfsTer?
NM_173689.6:c.3256_3273delinsCGGCCCGGGGTGG	NP_775960.4:p.Trp1086ArgfsTer?
NR_104603.1:n.2370_2387delinsCGGCCCGGGGTGG
XM_005251934.1:c.2260_2277delinsCGGCCCGGGGTGG	XP_005251991.1:p.Trp754ArgfsTer?
XM_011518556.1:c.3229_3246delinsCGGCCCGGGGTGG	XP_011516858.1:p.Trp1077ArgfsTer?
XM_011518557.1:c.3061_3078delinsCGGCCCGGGGTGG	XP_011516859.1:p.Trp1021ArgfsTer?
XM_011518558.1:c.3061_3078delinsCGGCCCGGGGTGG	XP_011516860.1:p.Trp1021ArgfsTer?
XM_005251934.3:c.2260_2277delinsCGGCCCGGGGTGG	XP_005251991.1:p.Trp754ArgfsTer?
XM_011518556.3:c.3229_3246delinsCGGCCCGGGGTGG	XP_011516858.1:p.Trp1077ArgfsTer?
XM_011518557.3:c.3061_3078delinsCGGCCCGGGGTGG	XP_011516859.1:p.Trp1021ArgfsTer?
XM_011518558.3:c.3061_3078delinsCGGCCCGGGGTGG	XP_011516860.1:p.Trp1021ArgfsTer?
NM_173689.7:c.3256_3273delinsCGGCCCGGGGTGG MANE Select	NP_775960.4:p.Trp1086ArgfsTer?
NR_104603.2:n.2370_2387delinsCGGCCCGGGGTGG