Canonical Allele Identifier: CA2771464269

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984726_63984727insCA , CM000668.2:g.63984726_63984727insCA	GRCh38
NC_000006.11:g.64694619_64694620insCA , CM000668.1:g.64694619_64694620insCA	GRCh37
NC_000006.10:g.64752578_64752579insCA	NCBI36
NG_023443.1:g.1727499_1727500insTG
NG_023443.2:g.1727499_1727500insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-124_6835-123insTG MANE Select	ENSP00000424243.1:n.6835-124_6835-123insTG
ENST00000370616.6:c.6835-124_6835-123insTG	ENSP00000359650.2:n.6835-124_6835-123insTG
ENST00000370618.7:c.6835-124_6835-123insTG	ENSP00000359652.4:n.6835-124_6835-123insTG
ENST00000370621.7:c.6835-124_6835-123insTG	ENSP00000359655.3:n.6835-124_6835-123insTG
ENST00000398580.3:c.149-124_149-123insTG
ENST00000503581.5:c.6835-124_6835-123insTG	ENSP00000424243.1:n.6835-124_6835-123insTG
NM_001142800.1:c.6835-124_6835-123insTG	NP_001136272.1:n.6835-124_6835-123insTG
NM_001292009.1:c.6835-124_6835-123insTG	NP_001278938.1:n.6835-124_6835-123insTG
XR_001744188.1:n.606+16442_606+16443insCA
XR_001744189.1:n.129+16442_129+16443insCA
XR_001744190.1:n.197+16442_197+16443insCA
XR_001744191.1:n.607-928_607-927insCA
NM_001142800.2:c.6835-124_6835-123insTG MANE Select	NP_001136272.1:n.6835-124_6835-123insTG
NM_001292009.2:c.6835-124_6835-123insTG	NP_001278938.1:n.6835-124_6835-123insTG