Canonical Allele Identifier: CA2598188132

Gene: OVOL1

Linked Data

• gnomAD v3: 11-65791863-CCAGTTCTGCTTCCTGCCT-C
• gnomAD v4: 11-65791863-CCAGTTCTGCTTCCTGCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65791865_65791882del , CM000673.2:g.65791865_65791882del	GRCh38
NC_000011.9:g.65559336_65559353del , CM000673.1:g.65559336_65559353del	GRCh37
NC_000011.8:g.65315912_65315929del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335987.8:c.101-2166_101-2149del MANE Select	ENSP00000337862.3:n.101-2166_101-2149del
ENST00000335987.7:c.101-2166_101-2149del	ENSP00000337862.3:n.101-2166_101-2149del
ENST00000531907.1:n.361-453_361-436del
NM_004561.3:c.101-2166_101-2149del	NP_004552.2:n.101-2166_101-2149del
XM_005274018.3:c.-86-2166_-86-2149del	XP_005274075.1:n.-86-2166_-86-2149del
XM_011545067.1:c.-86-2166_-86-2149del	XP_011543369.1:n.-86-2166_-86-2149del
XM_011545068.1:c.-87+1002_-87+1019del	XP_011543370.1:n.-87+1002_-87+1019del
XM_011545067.2:c.-86-2166_-86-2149del	XP_011543369.1:n.-86-2166_-86-2149del
XM_011545068.3:c.-87+1002_-87+1019del	XP_011543370.1:n.-87+1002_-87+1019del
XM_017017837.1:c.-86-2166_-86-2149del	XP_016873326.1:n.-86-2166_-86-2149del
NM_004561.4:c.101-2166_101-2149del MANE Select	NP_004552.2:n.101-2166_101-2149del