Canonical Allele Identifier: CA2596218507

Gene: SLC29A1 POLR1C

Linked Data

• gnomAD v3: 6-44230702-GGGTCT-G
• gnomAD v4: 6-44230702-GGGTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44230705_44230709del , CM000668.2:g.44230705_44230709del	GRCh38
NC_000006.11:g.44198442_44198446del , CM000668.1:g.44198442_44198446del	GRCh37
NC_000006.10:g.44306420_44306424del	NCBI36
NG_042893.1:g.16201_16205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371713.6:c.687+40_687+44del (SLC29A1)	ENSP00000360778.1:n.687+40_687+44del
ENST00000371724.6:c.687+40_687+44del (SLC29A1)	ENSP00000360789.1:n.687+40_687+44del
ENST00000371755.9:c.687+40_687+44del (SLC29A1) MANE Select	ENSP00000360820.3:n.687+40_687+44del
ENST00000393844.7:c.687+40_687+44del (SLC29A1)	ENSP00000377427.1:n.687+40_687+44del
ENST00000472176.2:n.1085+40_1085+44del (SLC29A1)
ENST00000646251.1:c.374+40_374+44del (SLC29A1)
ENST00000651428.1:c.687+40_687+44del (SLC29A1)	ENSP00000498610.1:n.687+40_687+44del
ENST00000652453.1:c.687+40_687+44del (SLC29A1)	ENSP00000499107.1:n.687+40_687+44del
ENST00000652680.1:c.687+40_687+44del (SLC29A1)	ENSP00000498747.1:n.687+40_687+44del
ENST00000371708.1:c.687+40_687+44del (SLC29A1)	ENSP00000360773.1:n.687+40_687+44del
ENST00000371713.5:c.687+40_687+44del (SLC29A1)	ENSP00000360778.1:n.687+40_687+44del
ENST00000371724.5:c.687+40_687+44del (SLC29A1)	ENSP00000360789.1:n.687+40_687+44del
ENST00000371731.5:c.687+40_687+44del (SLC29A1)	ENSP00000360796.1:n.687+40_687+44del
ENST00000371740.9:c.687+40_687+44del (SLC29A1)	ENSP00000360805.5:n.687+40_687+44del
ENST00000371755.7:c.687+40_687+44del (SLC29A1)	ENSP00000360820.3:n.687+40_687+44del
ENST00000393841.5:c.687+40_687+44del (SLC29A1)	ENSP00000377424.1:n.687+40_687+44del
ENST00000393844.5:c.687+40_687+44del (SLC29A1)	ENSP00000377427.1:n.687+40_687+44del
ENST00000427851.6:c.687+40_687+44del (SLC29A1)	ENSP00000392668.2:n.687+40_687+44del
ENST00000472176.1:n.876+40_876+44del (SLC29A1)
NM_001078175.2:c.687+40_687+44del (SLC29A1)	NP_001071643.1:n.687+40_687+44del
NM_001078177.1:c.687+40_687+44del (SLC29A1)	NP_001071645.1:n.687+40_687+44del
NM_001304462.1:c.924+40_924+44del (SLC29A1)	NP_001291391.1:n.924+40_924+44del
NM_001304463.1:c.813+40_813+44del (SLC29A1)	NP_001291392.1:n.813+40_813+44del
NM_001304465.1:c.765+40_765+44del (SLC29A1)	NP_001291394.1:n.765+40_765+44del
NM_001304466.1:c.762+40_762+44del (SLC29A1)	NP_001291395.1:n.762+40_762+44del
XM_005248876.3:c.816+40_816+44del (SLC29A1)	XP_005248933.1:n.816+40_816+44del
XM_005248878.3:c.687+40_687+44del (SLC29A1)	XP_005248935.1:n.687+40_687+44del
XM_005248879.3:c.687+40_687+44del (SLC29A1)	XP_005248936.1:n.687+40_687+44del
XM_005248880.3:c.687+40_687+44del (SLC29A1)	XP_005248937.1:n.687+40_687+44del
XM_005248881.3:c.687+40_687+44del (SLC29A1)	XP_005248938.1:n.687+40_687+44del
XM_005248882.3:c.687+40_687+44del (SLC29A1)	XP_005248939.1:n.687+40_687+44del
XM_011514341.1:c.927+40_927+44del (SLC29A1)	XP_011512643.1:n.927+40_927+44del
XM_005248876.5:c.816+40_816+44del (SLC29A1)	XP_005248933.1:n.816+40_816+44del
XM_005248878.4:c.687+40_687+44del (SLC29A1)	XP_005248935.1:n.687+40_687+44del
XM_005248879.4:c.687+40_687+44del (SLC29A1)	XP_005248936.1:n.687+40_687+44del
XM_005248880.4:c.687+40_687+44del (SLC29A1)	XP_005248937.1:n.687+40_687+44del
XM_005248881.4:c.687+40_687+44del (SLC29A1)	XP_005248938.1:n.687+40_687+44del
XM_005248882.4:c.687+40_687+44del (SLC29A1)	XP_005248939.1:n.687+40_687+44del
XM_011514341.2:c.927+40_927+44del (SLC29A1)	XP_011512643.1:n.927+40_927+44del
XM_024446348.1:c.687+40_687+44del (SLC29A1)	XP_024302116.1:n.687+40_687+44del
NM_001078175.3:c.687+40_687+44del (SLC29A1)	NP_001071643.1:n.687+40_687+44del
NM_001078177.2:c.687+40_687+44del (SLC29A1)	NP_001071645.1:n.687+40_687+44del
NM_001304462.2:c.924+40_924+44del (SLC29A1)	NP_001291391.1:n.924+40_924+44del
NM_001304465.2:c.765+40_765+44del (SLC29A1)	NP_001291394.1:n.765+40_765+44del
NM_001304466.2:c.762+40_762+44del (SLC29A1)	NP_001291395.1:n.762+40_762+44del
NM_001372327.1:c.687+40_687+44del (SLC29A1) MANE Select	NP_001359256.1:n.687+40_687+44del
NM_001318876.2:c.946-211185_946-211181del (POLR1C)	NP_001305805.1:n.946-211185_946-211181del