Canonical Allele Identifier: CA1877946520

Gene: CRB2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376917_123376923delinsTCCTGGG , CM000671.2:g.123376917_123376923delinsTCCTGGG	GRCh38
NC_000009.11:g.126139196_126139202delinsTCCTGGG , CM000671.1:g.126139196_126139202delinsTCCTGGG	GRCh37
NC_000009.10:g.125179017_125179023delinsTCCTGGG	NCBI36
NG_051311.1:g.27853_27859delinsTCCTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3713_3719delinsTCCTGGG MANE Select	ENSP00000362734.3:p.Leu1238=
ENST00000373631.7:c.3713_3719delinsTCCTGGG	ENSP00000362734.3:p.Leu1238=
ENST00000460253.1:c.2717_2723delinsTCCTGGG	ENSP00000435279.1:p.Leu906=
NM_173689.6:c.3713_3719delinsTCCTGGG	NP_775960.4:p.Leu1238=
NR_104603.1:n.2827_2833delinsTCCTGGG
XM_005251934.1:c.2717_2723delinsTCCTGGG	XP_005251991.1:p.Leu906=
XM_011518556.1:c.3686_3692delinsTCCTGGG	XP_011516858.1:p.Leu1229=
XM_011518557.1:c.3518_3524delinsTCCTGGG	XP_011516859.1:p.Leu1173=
XM_011518558.1:c.3518_3524delinsTCCTGGG	XP_011516860.1:p.Leu1173=
XM_005251934.3:c.2717_2723delinsTCCTGGG	XP_005251991.1:p.Leu906=
XM_011518556.3:c.3686_3692delinsTCCTGGG	XP_011516858.1:p.Leu1229=
XM_011518557.3:c.3518_3524delinsTCCTGGG	XP_011516859.1:p.Leu1173=
XM_011518558.3:c.3518_3524delinsTCCTGGG	XP_011516860.1:p.Leu1173=
NM_173689.7:c.3713_3719delinsTCCTGGG MANE Select	NP_775960.4:p.Leu1238=
NR_104603.2:n.2827_2833delinsTCCTGGG