Canonical Allele Identifier: CA827005700

Gene: EYS

Linked Data

• dbSNP Id: rs1189838767
• gnomAD v4: 6-64230902-GATTTA-G
• MyVariant Identifiers: chr6:g.64940796_64940800del (hg19) ; chr6:g.64230903_64230907del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230905_64230909del , CM000668.2:g.64230905_64230909del	GRCh38
NC_000006.11:g.64940798_64940802del , CM000668.1:g.64940798_64940802del	GRCh37
NC_000006.10:g.64998757_64998761del	NCBI36
NG_023443.1:g.1481319_1481323del
NG_023443.2:g.1481319_1481323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6192-83_6192-79del MANE Select	ENSP00000424243.1:n.6192-83_6192-79del
ENST00000370616.6:c.6192-83_6192-79del	ENSP00000359650.2:n.6192-83_6192-79del
ENST00000370618.7:c.6192-83_6192-79del	ENSP00000359652.4:n.6192-83_6192-79del
ENST00000370621.7:c.6192-83_6192-79del	ENSP00000359655.3:n.6192-83_6192-79del
ENST00000503581.5:c.6192-83_6192-79del	ENSP00000424243.1:n.6192-83_6192-79del
NM_001142800.1:c.6192-83_6192-79del	NP_001136272.1:n.6192-83_6192-79del
NM_001292009.1:c.6192-83_6192-79del	NP_001278938.1:n.6192-83_6192-79del
NM_001142800.2:c.6192-83_6192-79del MANE Select	NP_001136272.1:n.6192-83_6192-79del
NM_001292009.2:c.6192-83_6192-79del	NP_001278938.1:n.6192-83_6192-79del