Canonical Allele Identifier: CA590936450

Gene: CRB2

Linked Data

• dbSNP Id: rs1564380904
• gnomAD v2: 9-126139366-ACCTGGAGGTCCTGAATGGTTTCTACCTGGAGACCCAAGGAAGCTGCTTCCAGGG-A
• gnomAD v4: 9-123377087-ACCTGGAGGTCCTGAATGGTTTCTACCTGGAGACCCAAGGAAGCTGCTTCCAGGG-A
• MyVariant Identifiers: chr9:g.126139367_126139420del (hg19) ; chr9:g.123377088_123377141del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377089_123377142del , CM000671.2:g.123377089_123377142del	GRCh38
NC_000009.11:g.126139368_126139421del , CM000671.1:g.126139368_126139421del	GRCh37
NC_000009.10:g.125179189_125179242del	NCBI36
NG_051311.1:g.28025_28078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.*27_*80del MANE Select	ENSP00000362734.3:n.*27_*80del
ENST00000373631.7:c.*27_*80del	ENSP00000362734.3:n.*27_*80del
ENST00000460253.1:c.*27_*80del	ENSP00000435279.1:n.*27_*80del
NM_173689.6:c.*27_*80del	NP_775960.4:n.*27_*80del
NR_104603.1:n.2999_3052del
XM_005251934.1:c.*27_*80del	XP_005251991.1:n.*27_*80del
XM_011518556.1:c.*27_*80del	XP_011516858.1:n.*27_*80del
XM_011518557.1:c.*27_*80del	XP_011516859.1:n.*27_*80del
XM_011518558.1:c.*27_*80del	XP_011516860.1:n.*27_*80del
XM_005251934.3:c.*27_*80del	XP_005251991.1:n.*27_*80del
XM_011518556.3:c.*27_*80del	XP_011516858.1:n.*27_*80del
XM_011518557.3:c.*27_*80del	XP_011516859.1:n.*27_*80del
XM_011518558.3:c.*27_*80del	XP_011516860.1:n.*27_*80del
NM_173689.7:c.*27_*80del MANE Select	NP_775960.4:n.*27_*80del
NR_104603.2:n.2999_3052del