Canonical Allele Identifier: CA2771464264

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984723_63984724insACA , CM000668.2:g.63984723_63984724insACA	GRCh38
NC_000006.11:g.64694616_64694617insACA , CM000668.1:g.64694616_64694617insACA	GRCh37
NC_000006.10:g.64752575_64752576insACA	NCBI36
NG_023443.1:g.1727502_1727503insTGT
NG_023443.2:g.1727502_1727503insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-121_6835-120insTGT MANE Select	ENSP00000424243.1:n.6835-121_6835-120insTGT
ENST00000370616.6:c.6835-121_6835-120insTGT	ENSP00000359650.2:n.6835-121_6835-120insTGT
ENST00000370618.7:c.6835-121_6835-120insTGT	ENSP00000359652.4:n.6835-121_6835-120insTGT
ENST00000370621.7:c.6835-121_6835-120insTGT	ENSP00000359655.3:n.6835-121_6835-120insTGT
ENST00000398580.3:c.149-121_149-120insTGT
ENST00000503581.5:c.6835-121_6835-120insTGT	ENSP00000424243.1:n.6835-121_6835-120insTGT
NM_001142800.1:c.6835-121_6835-120insTGT	NP_001136272.1:n.6835-121_6835-120insTGT
NM_001292009.1:c.6835-121_6835-120insTGT	NP_001278938.1:n.6835-121_6835-120insTGT
XR_001744188.1:n.606+16439_606+16440insACA
XR_001744189.1:n.129+16439_129+16440insACA
XR_001744190.1:n.197+16439_197+16440insACA
XR_001744191.1:n.607-931_607-930insACA
NM_001142800.2:c.6835-121_6835-120insTGT MANE Select	NP_001136272.1:n.6835-121_6835-120insTGT
NM_001292009.2:c.6835-121_6835-120insTGT	NP_001278938.1:n.6835-121_6835-120insTGT