Canonical Allele Identifier: CA2771464206

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984657_63984658insCAT , CM000668.2:g.63984657_63984658insCAT	GRCh38
NC_000006.11:g.64694550_64694551insCAT , CM000668.1:g.64694550_64694551insCAT	GRCh37
NC_000006.10:g.64752509_64752510insCAT	NCBI36
NG_023443.1:g.1727568_1727569insATG
NG_023443.2:g.1727568_1727569insATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-55_6835-54insATG MANE Select	ENSP00000424243.1:n.6835-55_6835-54insATG
ENST00000370616.6:c.6835-55_6835-54insATG	ENSP00000359650.2:n.6835-55_6835-54insATG
ENST00000370618.7:c.6835-55_6835-54insATG	ENSP00000359652.4:n.6835-55_6835-54insATG
ENST00000370621.7:c.6835-55_6835-54insATG	ENSP00000359655.3:n.6835-55_6835-54insATG
ENST00000398580.3:c.149-55_149-54insATG
ENST00000503581.5:c.6835-55_6835-54insATG	ENSP00000424243.1:n.6835-55_6835-54insATG
NM_001142800.1:c.6835-55_6835-54insATG	NP_001136272.1:n.6835-55_6835-54insATG
NM_001292009.1:c.6835-55_6835-54insATG	NP_001278938.1:n.6835-55_6835-54insATG
XR_001744188.1:n.606+16373_606+16374insCAT
XR_001744189.1:n.129+16373_129+16374insCAT
XR_001744190.1:n.197+16373_197+16374insCAT
XR_001744191.1:n.607-997_607-996insCAT
NM_001142800.2:c.6835-55_6835-54insATG MANE Select	NP_001136272.1:n.6835-55_6835-54insATG
NM_001292009.2:c.6835-55_6835-54insATG	NP_001278938.1:n.6835-55_6835-54insATG