Canonical Allele Identifier: CA599849613

Gene: OVOL1

Linked Data

• dbSNP Id: rs1326107131
• gnomAD v2: 11-65559357-CCACTCAGCGA-C
• gnomAD v3: 11-65791886-CCACTCAGCGA-C
• gnomAD v4: 11-65791886-CCACTCAGCGA-C
• MyVariant Identifiers: chr11:g.65559358_65559367del (hg19) ; chr11:g.65791887_65791896del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65791894_65791903del , CM000673.2:g.65791894_65791903del	GRCh38
NC_000011.9:g.65559365_65559374del , CM000673.1:g.65559365_65559374del	GRCh37
NC_000011.8:g.65315941_65315950del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000335987.8:c.101-2137_101-2128del MANE Select	ENSP00000337862.3:n.101-2137_101-2128del
ENST00000335987.7:c.101-2137_101-2128del	ENSP00000337862.3:n.101-2137_101-2128del
ENST00000531907.1:n.361-424_361-415del
NM_004561.3:c.101-2137_101-2128del	NP_004552.2:n.101-2137_101-2128del
XM_005274018.3:c.-86-2137_-86-2128del	XP_005274075.1:n.-86-2137_-86-2128del
XM_011545067.1:c.-86-2137_-86-2128del	XP_011543369.1:n.-86-2137_-86-2128del
XM_011545068.1:c.-87+1031_-87+1040del	XP_011543370.1:n.-87+1031_-87+1040del
XM_011545067.2:c.-86-2137_-86-2128del	XP_011543369.1:n.-86-2137_-86-2128del
XM_011545068.3:c.-87+1031_-87+1040del	XP_011543370.1:n.-87+1031_-87+1040del
XM_017017837.1:c.-86-2137_-86-2128del	XP_016873326.1:n.-86-2137_-86-2128del
NM_004561.4:c.101-2137_101-2128del MANE Select	NP_004552.2:n.101-2137_101-2128del