Canonical Allele Identifier: CA899198
Gene: SLC35D1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1406521
ClinVar RCV Id: RCV001935457
dbSNP Id: rs759849927
ExAC: 1:67519670 ATGC / A
gnomAD v2: 1-67519670-ATGC-A
gnomAD v3: 1-67053987-ATGC-A
gnomAD v4: 1-67053987-ATGC-A
MyVariant Identifiers: chr1:g.67519671_67519673del (hg19) chr1:g.67053988_67053990del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67053990_67053992del , CM000663.2:g.67053990_67053992del GRCh38
NC_000001.10:g.67519673_67519675del , CM000663.1:g.67519673_67519675del GRCh37
NC_000001.9:g.67292261_67292263del NCBI36
NG_012933.1:g.5408_5410del

Transcript Alleles

HGVS Amino-acid Change
ENST00000235345.6:c.24_26del MANE Select ENSP00000235345.5:p.Gln8del
ENST00000235345.5:c.24_26del ENSP00000235345.5:p.Gln8del
NM_015139.2:c.24_26del NP_055954.1:p.Gln8del
XM_006710478.1:c.24_26del XP_006710541.1:p.Gln8del
XM_011541070.1:c.24_26del XP_011539372.1:p.Gln8del
XM_006710478.2:c.24_26del XP_006710541.1:p.Gln8del
XM_011541070.2:c.24_26del XP_011539372.1:p.Gln8del
XR_001737057.2:n.434_436del
XR_001737058.2:n.427_429del
NM_015139.3:c.24_26del MANE Select NP_055954.1:p.Gln8del
Search 100 bp 5'
Search 100 bp 3'