Canonical Allele Identifier: CA140296109

Gene: EYS

Linked Data

• dbSNP Id: rs745985064
• gnomAD v2: 6-64940804-TAAGAG-T
• gnomAD v3: 6-64230911-TAAGAG-T
• gnomAD v4: 6-64230911-TAAGAG-T
• MyVariant Identifiers: chr6:g.64940805_64940809del (hg19) ; chr6:g.64230912_64230916del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230914_64230918del , CM000668.2:g.64230914_64230918del	GRCh38
NC_000006.11:g.64940807_64940811del , CM000668.1:g.64940807_64940811del	GRCh37
NC_000006.10:g.64998766_64998770del	NCBI36
NG_023443.1:g.1481310_1481314del
NG_023443.2:g.1481310_1481314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6192-92_6192-88del MANE Select	ENSP00000424243.1:n.6192-92_6192-88del
ENST00000370616.6:c.6192-92_6192-88del	ENSP00000359650.2:n.6192-92_6192-88del
ENST00000370618.7:c.6192-92_6192-88del	ENSP00000359652.4:n.6192-92_6192-88del
ENST00000370621.7:c.6192-92_6192-88del	ENSP00000359655.3:n.6192-92_6192-88del
ENST00000503581.5:c.6192-92_6192-88del	ENSP00000424243.1:n.6192-92_6192-88del
NM_001142800.1:c.6192-92_6192-88del	NP_001136272.1:n.6192-92_6192-88del
NM_001292009.1:c.6192-92_6192-88del	NP_001278938.1:n.6192-92_6192-88del
NM_001142800.2:c.6192-92_6192-88del MANE Select	NP_001136272.1:n.6192-92_6192-88del
NM_001292009.2:c.6192-92_6192-88del	NP_001278938.1:n.6192-92_6192-88del