Canonical Allele Identifier: CA2678935189
Gene: SLC29A1 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44230484_44230569del , CM000668.2:g.44230484_44230569del GRCh38
NC_000006.11:g.44198221_44198306del , CM000668.1:g.44198221_44198306del GRCh37
NC_000006.10:g.44306199_44306284del NCBI36
NG_042893.1:g.15980_16065del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371713.6:c.589+3_591del (SLC29A1)
ENST00000371724.6:c.589+3_591del (SLC29A1)
ENST00000371731.6:c.589+3_591del (SLC29A1)
ENST00000371740.10:c.589+3_591del (SLC29A1)
ENST00000371755.9:c.589+3_591del (SLC29A1)
ENST00000393844.7:c.589+3_591del (SLC29A1)
ENST00000472176.2:n.987+3_989del (SLC29A1)
ENST00000643028.2:c.532+3_534del (SLC29A1)
ENST00000646251.1:c.276+3_278del (SLC29A1)
ENST00000651428.1:c.589+3_591del (SLC29A1)
ENST00000652453.1:c.589+3_591del (SLC29A1)
ENST00000652680.1:c.589+3_591del (SLC29A1)
ENST00000371708.1:c.589+3_591del (SLC29A1)
ENST00000371713.5:c.589+3_591del (SLC29A1)
ENST00000371724.5:c.589+3_591del (SLC29A1)
ENST00000371731.5:c.589+3_591del (SLC29A1)
ENST00000371740.9:c.589+3_591del (SLC29A1)
ENST00000371755.7:c.589+3_591del (SLC29A1)
ENST00000393841.5:c.589+3_591del (SLC29A1)
ENST00000393844.5:c.589+3_591del (SLC29A1)
ENST00000427851.6:c.589+3_591del (SLC29A1)
ENST00000472176.1:n.778+3_780del (SLC29A1)
NM_001078175.2:c.589+3_591del (SLC29A1)
NM_001078177.1:c.589+3_591del (SLC29A1)
NM_001304462.1:c.826+3_828del (SLC29A1)
NM_001304463.1:c.715+3_717del (SLC29A1)
NM_001304465.1:c.667+3_669del (SLC29A1)
NM_001304466.1:c.664+3_666del (SLC29A1)
XM_005248876.3:c.718+3_720del (SLC29A1)
XM_005248878.3:c.589+3_591del (SLC29A1)
XM_005248879.3:c.589+3_591del (SLC29A1)
XM_005248880.3:c.589+3_591del (SLC29A1)
XM_005248881.3:c.589+3_591del (SLC29A1)
XM_005248882.3:c.589+3_591del (SLC29A1)
XM_011514341.1:c.829+3_831del (SLC29A1)
XM_005248876.5:c.718+3_720del (SLC29A1)
XM_005248878.4:c.589+3_591del (SLC29A1)
XM_005248879.4:c.589+3_591del (SLC29A1)
XM_005248880.4:c.589+3_591del (SLC29A1)
XM_005248881.4:c.589+3_591del (SLC29A1)
XM_005248882.4:c.589+3_591del (SLC29A1)
XM_011514341.2:c.829+3_831del (SLC29A1)
XM_024446348.1:c.589+3_591del (SLC29A1)
NM_001078175.3:c.589+3_591del (SLC29A1)
NM_001078177.2:c.589+3_591del (SLC29A1)
NM_001304462.2:c.826+3_828del (SLC29A1)
NM_001304465.2:c.667+3_669del (SLC29A1)
NM_001304466.2:c.664+3_666del (SLC29A1)
NM_001372327.1:c.589+3_591del (SLC29A1)
NM_001318876.2:c.946-211406_946-211321del (POLR1C) NP_001305805.1:n.946-211406_946-211321del