Canonical Allele Identifier: CA2401804221
Gene: SLC5A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104812_32104813delinsCA , CM000684.2:g.32104812_32104813delinsCA GRCh38
NC_000022.10:g.32500799_32500800delinsCA , CM000684.1:g.32500799_32500800delinsCA GRCh37
NC_000022.9:g.30830799_30830800delinsCA NCBI36
NG_017045.1:g.66781_66782delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1692_1693delinsCA MANE Select ENSP00000266088.4:p.Arg564=
ENST00000266088.8:c.1692_1693delinsCA ENSP00000266088.4:p.Arg564=
ENST00000543737.2:c.1311_1312delinsCA ENSP00000444898.1:p.Arg437=
NM_000343.3:c.1692_1693delinsCA NP_000334.1:p.Arg564=
NM_001256314.1:c.1311_1312delinsCA NP_001243243.1:p.Arg437=
XR_938173.1:n.591+2025_591+2026delinsTG
XR_938174.1:n.486+15042_486+15043delinsTG
NM_000343.4:c.1692_1693delinsCA MANE Select NP_000334.1:p.Arg564=
NM_001256314.2:c.1311_1312delinsCA NP_001243243.1:p.Arg437=
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