Canonical Allele Identifier: CA2771464227

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984680_63984681insAC , CM000668.2:g.63984680_63984681insAC	GRCh38
NC_000006.11:g.64694573_64694574insAC , CM000668.1:g.64694573_64694574insAC	GRCh37
NC_000006.10:g.64752532_64752533insAC	NCBI36
NG_023443.1:g.1727545_1727546insGT
NG_023443.2:g.1727545_1727546insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-78_6835-77insGT MANE Select	ENSP00000424243.1:n.6835-78_6835-77insGT
ENST00000370616.6:c.6835-78_6835-77insGT	ENSP00000359650.2:n.6835-78_6835-77insGT
ENST00000370618.7:c.6835-78_6835-77insGT	ENSP00000359652.4:n.6835-78_6835-77insGT
ENST00000370621.7:c.6835-78_6835-77insGT	ENSP00000359655.3:n.6835-78_6835-77insGT
ENST00000398580.3:c.149-78_149-77insGT
ENST00000503581.5:c.6835-78_6835-77insGT	ENSP00000424243.1:n.6835-78_6835-77insGT
NM_001142800.1:c.6835-78_6835-77insGT	NP_001136272.1:n.6835-78_6835-77insGT
NM_001292009.1:c.6835-78_6835-77insGT	NP_001278938.1:n.6835-78_6835-77insGT
XR_001744188.1:n.606+16396_606+16397insAC
XR_001744189.1:n.129+16396_129+16397insAC
XR_001744190.1:n.197+16396_197+16397insAC
XR_001744191.1:n.607-974_607-973insAC
NM_001142800.2:c.6835-78_6835-77insGT MANE Select	NP_001136272.1:n.6835-78_6835-77insGT
NM_001292009.2:c.6835-78_6835-77insGT	NP_001278938.1:n.6835-78_6835-77insGT