Canonical Allele Identifier: CA2656284920
Gene: SLC5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104910_32104912dup , CM000684.2:g.32104910_32104912dup GRCh38
NC_000022.10:g.32500897_32500899dup , CM000684.1:g.32500897_32500899dup GRCh37
NC_000022.9:g.30830897_30830899dup NCBI36
NG_017045.1:g.66879_66881dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1771+19_1771+21dup MANE Select ENSP00000266088.4:n.1771+19_1771+21dup
ENST00000266088.8:c.1771+19_1771+21dup ENSP00000266088.4:n.1771+19_1771+21dup
ENST00000543737.2:c.1390+19_1390+21dup ENSP00000444898.1:n.1390+19_1390+21dup
NM_000343.3:c.1771+19_1771+21dup NP_000334.1:n.1771+19_1771+21dup
NM_001256314.1:c.1390+19_1390+21dup NP_001243243.1:n.1390+19_1390+21dup
XR_938173.1:n.591+1928_591+1930dup
XR_938174.1:n.486+14945_486+14947dup
NM_000343.4:c.1771+19_1771+21dup MANE Select NP_000334.1:n.1771+19_1771+21dup
NM_001256314.2:c.1390+19_1390+21dup NP_001243243.1:n.1390+19_1390+21dup