Canonical Allele Identifier: CA913087389
Gene: SLC5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.32500805_32500806insA (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104821dup , CM000684.2:g.32104821dup GRCh38
NC_000022.10:g.32500808dup , CM000684.1:g.32500808dup GRCh37
NC_000022.9:g.30830808dup NCBI36
NG_017045.1:g.66790dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1701dup MANE Select ENSP00000266088.4:p.Glu568ArgfsTer5
ENST00000266088.8:c.1701dup ENSP00000266088.4:p.Glu568ArgfsTer5
ENST00000543737.2:c.1320dup ENSP00000444898.1:p.Glu441ArgfsTer5
NM_000343.3:c.1701dup NP_000334.1:p.Glu568ArgfsTer5
NM_001256314.1:c.1320dup NP_001243243.1:p.Glu441ArgfsTer5
XR_938173.1:n.591+2019dup
XR_938174.1:n.486+15036dup
NM_000343.4:c.1701dup MANE Select NP_000334.1:p.Glu568ArgfsTer5
NM_001256314.2:c.1320dup NP_001243243.1:p.Glu441ArgfsTer5
Search 100 bp 5'
Search 100 bp 3'