Canonical Allele Identifier: CA2401804269
Gene: SLC5A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104889_32104890delinsTA , CM000684.2:g.32104889_32104890delinsTA GRCh38
NC_000022.10:g.32500876_32500877delinsTA , CM000684.1:g.32500876_32500877delinsTA GRCh37
NC_000022.9:g.30830876_30830877delinsTA NCBI36
NG_017045.1:g.66858_66859delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1769_1770delinsTA MANE Select ENSP00000266088.4:p.Ile590=
ENST00000266088.8:c.1769_1770delinsTA ENSP00000266088.4:p.Ile590=
ENST00000543737.2:c.1388_1389delinsTA ENSP00000444898.1:p.Ile463=
NM_000343.3:c.1769_1770delinsTA NP_000334.1:p.Ile590=
NM_001256314.1:c.1388_1389delinsTA NP_001243243.1:p.Ile463=
XR_938173.1:n.591+1948_591+1949delinsTA
XR_938174.1:n.486+14965_486+14966delinsTA
NM_000343.4:c.1769_1770delinsTA MANE Select NP_000334.1:p.Ile590=
NM_001256314.2:c.1388_1389delinsTA NP_001243243.1:p.Ile463=
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