Canonical Allele Identifier: CA3876940

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64307101_64307106del , CM000668.2:g.64307101_64307106del	GRCh38
NC_000006.11:g.65016994_65016999del , CM000668.1:g.65016994_65016999del	GRCh37
NC_000006.10:g.65074953_65074958del	NCBI36
NG_023443.1:g.1405136_1405141del
NG_023443.2:g.1405136_1405141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6079-8_6079-3del MANE Select	ENSP00000424243.1:n.6079-8_6079-3del
ENST00000370616.6:c.6079-8_6079-3del	ENSP00000359650.2:n.6079-8_6079-3del
ENST00000370618.7:c.6079-8_6079-3del	ENSP00000359652.4:n.6079-8_6079-3del
ENST00000370621.7:c.6079-8_6079-3del	ENSP00000359655.3:n.6079-8_6079-3del
ENST00000503581.5:c.6079-8_6079-3del	ENSP00000424243.1:n.6079-8_6079-3del
NM_001142800.1:c.6079-8_6079-3del	NP_001136272.1:n.6079-8_6079-3del
NM_001292009.1:c.6079-8_6079-3del	NP_001278938.1:n.6079-8_6079-3del
NM_001142800.2:c.6079-8_6079-3del MANE Select	NP_001136272.1:n.6079-8_6079-3del
NM_001292009.2:c.6079-8_6079-3del	NP_001278938.1:n.6079-8_6079-3del