Canonical Allele Identifier: CA142864090
Community Standard Title: NM_006416.5(SLC35A1):c.17-174_17-171dup
Gene: SLC35A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.87477188_87477191dup , CM000668.2:g.87477188_87477191dup GRCh38
NC_000006.11:g.88186906_88186909dup , CM000668.1:g.88186906_88186909dup GRCh37
NC_000006.10:g.88243625_88243628dup NCBI36
NG_016207.1:g.9264_9267dup

Transcript Alleles

HGVS Amino-acid Change
NM_006416.5:c.17-174_17-171dup MANE Select NP_006407.1:n.17-174_17-171dup
ENST00000369552.9:c.17-174_17-171dup MANE Select ENSP00000358565.4:n.17-174_17-171dup
NM_001168398.1:c.17-174_17-171dup NP_001161870.1:n.17-174_17-171dup
NM_001168398.2:c.17-174_17-171dup NP_001161870.1:n.17-174_17-171dup
NM_006416.4:c.17-174_17-171dup NP_006407.1:n.17-174_17-171dup
ENST00000369552.8:c.17-174_17-171dup ENSP00000358565.4:n.17-174_17-171dup
ENST00000369556.7:c.17-174_17-171dup ENSP00000358569.3:n.17-174_17-171dup
ENST00000369557.9:c.17-174_17-171dup ENSP00000358570.5:n.17-174_17-171dup
ENST00000464978.5:n.92-174_92-171dup
ENST00000506888.5:n.556-174_556-171dup
ENST00000507897.5:c.*61-174_*61-171dup ENSP00000426769.1:n.*61-174_*61-171dup
ENST00000513191.1:n.510-174_510-171dup
ENST00000544441.4:c.17-174_17-171dup ENSP00000438603.2:n.17-174_17-171dup