Canonical Allele Identifier: CA2401804224
Gene: SLC5A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104814_32104815delinsAC , CM000684.2:g.32104814_32104815delinsAC GRCh38
NC_000022.10:g.32500801_32500802delinsAC , CM000684.1:g.32500801_32500802delinsAC GRCh37
NC_000022.9:g.30830801_30830802delinsAC NCBI36
NG_017045.1:g.66783_66784delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1694_1695delinsAC MANE Select ENSP00000266088.4:p.Asn565=
ENST00000266088.8:c.1694_1695delinsAC ENSP00000266088.4:p.Asn565=
ENST00000543737.2:c.1313_1314delinsAC ENSP00000444898.1:p.Asn438=
NM_000343.3:c.1694_1695delinsAC NP_000334.1:p.Asn565=
NM_001256314.1:c.1313_1314delinsAC NP_001243243.1:p.Asn438=
XR_938173.1:n.591+2023_591+2024delinsGT
XR_938174.1:n.486+15040_486+15041delinsGT
NM_000343.4:c.1694_1695delinsAC MANE Select NP_000334.1:p.Asn565=
NM_001256314.2:c.1313_1314delinsAC NP_001243243.1:p.Asn438=
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