Canonical Allele Identifier: CA590936446

Gene: CRB2

Linked Data

• dbSNP Id: rs1336983808
• gnomAD v2: 9-126139301-ACAGTGTCCT-A
• gnomAD v4: 9-123377022-ACAGTGTCCT-A
• MyVariant Identifiers: chr9:g.126139302_126139310del (hg19) ; chr9:g.123377023_123377031del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377025_123377033del , CM000671.2:g.123377025_123377033del	GRCh38
NC_000009.11:g.126139304_126139312del , CM000671.1:g.126139304_126139312del	GRCh37
NC_000009.10:g.125179125_125179133del	NCBI36
NG_051311.1:g.27961_27969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3821_3829del MANE Select	ENSP00000362734.3:p.Ser1274_Leu1276del
ENST00000373631.7:c.3821_3829del	ENSP00000362734.3:p.Ser1274_Leu1276del
ENST00000460253.1:c.2825_2833del	ENSP00000435279.1:p.Ser942_Leu944del
NM_173689.6:c.3821_3829del	NP_775960.4:p.Ser1274_Leu1276del
NR_104603.1:n.2935_2943del
XM_005251934.1:c.2825_2833del	XP_005251991.1:p.Ser942_Leu944del
XM_011518556.1:c.3794_3802del	XP_011516858.1:p.Ser1265_Leu1267del
XM_011518557.1:c.3626_3634del	XP_011516859.1:p.Ser1209_Leu1211del
XM_011518558.1:c.3626_3634del	XP_011516860.1:p.Ser1209_Leu1211del
XM_005251934.3:c.2825_2833del	XP_005251991.1:p.Ser942_Leu944del
XM_011518556.3:c.3794_3802del	XP_011516858.1:p.Ser1265_Leu1267del
XM_011518557.3:c.3626_3634del	XP_011516859.1:p.Ser1209_Leu1211del
XM_011518558.3:c.3626_3634del	XP_011516860.1:p.Ser1209_Leu1211del
NM_173689.7:c.3821_3829del MANE Select	NP_775960.4:p.Ser1274_Leu1276del
NR_104603.2:n.2935_2943del