Canonical Allele Identifier: CA199642878

Gene: CRB2

Linked Data

• dbSNP Id: rs766650710
• gnomAD v3: 9-123376502-C-CCCTGCT
• gnomAD v4: 9-123376502-C-CCCTGCT
• MyVariant Identifiers: chr9:g.126138781_126138782insCCTGCT (hg19) ; chr9:g.123376502_123376503insCCTGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376510_123376515dup , CM000671.2:g.123376510_123376515dup	GRCh38
NC_000009.11:g.126138789_126138794dup , CM000671.1:g.126138789_126138794dup	GRCh37
NC_000009.10:g.125178610_125178615dup	NCBI36
NG_051311.1:g.27446_27451dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3634-328_3634-323dup MANE Select	ENSP00000362734.3:n.3634-328_3634-323dup
ENST00000373631.7:c.3634-328_3634-323dup	ENSP00000362734.3:n.3634-328_3634-323dup
ENST00000460253.1:c.2638-328_2638-323dup	ENSP00000435279.1:n.2638-328_2638-323dup
NM_173689.6:c.3634-328_3634-323dup	NP_775960.4:n.3634-328_3634-323dup
NR_104603.1:n.2748-328_2748-323dup
XM_005251934.1:c.2638-328_2638-323dup	XP_005251991.1:n.2638-328_2638-323dup
XM_011518556.1:c.3607-328_3607-323dup	XP_011516858.1:n.3607-328_3607-323dup
XM_011518557.1:c.3439-328_3439-323dup	XP_011516859.1:n.3439-328_3439-323dup
XM_011518558.1:c.3439-328_3439-323dup	XP_011516860.1:n.3439-328_3439-323dup
XM_005251934.3:c.2638-328_2638-323dup	XP_005251991.1:n.2638-328_2638-323dup
XM_011518556.3:c.3607-328_3607-323dup	XP_011516858.1:n.3607-328_3607-323dup
XM_011518557.3:c.3439-328_3439-323dup	XP_011516859.1:n.3439-328_3439-323dup
XM_011518558.3:c.3439-328_3439-323dup	XP_011516860.1:n.3439-328_3439-323dup
NM_173689.7:c.3634-328_3634-323dup MANE Select	NP_775960.4:n.3634-328_3634-323dup
NR_104603.2:n.2748-328_2748-323dup