Canonical Allele Identifier: CA1633626649
Gene: EYS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230657_64230663delinsGAGAGGA , CM000668.2:g.64230657_64230663delinsGAGAGGA GRCh38
NC_000006.11:g.64940550_64940556delinsGAGAGGA , CM000668.1:g.64940550_64940556delinsGAGAGGA GRCh37
NC_000006.10:g.64998509_64998515delinsGAGAGGA NCBI36
NG_023443.1:g.1481563_1481569delinsTCCTCTC
NG_023443.2:g.1481563_1481569delinsTCCTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6353_6359delinsTCCTCTC MANE Select ENSP00000424243.1:p.Phe2118=
ENST00000370616.6:c.6353_6359delinsTCCTCTC ENSP00000359650.2:p.Phe2118=
ENST00000370618.7:c.6353_6359delinsTCCTCTC ENSP00000359652.4:p.Phe2118=
ENST00000370621.7:c.6353_6359delinsTCCTCTC ENSP00000359655.3:p.Phe2118=
ENST00000503581.5:c.6353_6359delinsTCCTCTC ENSP00000424243.1:p.Phe2118=
NM_001142800.1:c.6353_6359delinsTCCTCTC NP_001136272.1:p.Phe2118=
NM_001292009.1:c.6353_6359delinsTCCTCTC NP_001278938.1:p.Phe2118=
NM_001142800.2:c.6353_6359delinsTCCTCTC MANE Select NP_001136272.1:p.Phe2118=
NM_001292009.2:c.6353_6359delinsTCCTCTC NP_001278938.1:p.Phe2118=
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