Canonical Allele Identifier: CA1918678301

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362013_71362014delinsAG , CM000672.2:g.71362013_71362014delinsAG	GRCh38
NC_000010.10:g.73121770_73121771delinsAG , CM000672.1:g.73121770_73121771delinsAG	GRCh37
NC_000010.9:g.72791776_72791777delinsAG	NCBI36
NG_017066.1:g.47761_47762delinsAG
NG_017066.2:g.47755_47756delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2309_2310delinsAG
ENST00000373189.6:c.833_834delinsAG MANE Select	ENSP00000362285.5:p.Gln278=
ENST00000479577.2:c.599_600delinsAG	ENSP00000493995.1:p.Gln200=
ENST00000642198.1:c.*405_*406delinsAG	ENSP00000494827.1:n.*405_*406delinsAG
ENST00000642772.1:c.*94+5770_*94+5771delinsAG	ENSP00000495041.1:n.*94+5770_*94+5771delinsAG
ENST00000643042.1:c.454_455delinsAG	ENSP00000496674.1:n.454_455delinsAG
ENST00000643619.1:c.*416_*417delinsAG	ENSP00000494378.1:n.*416_*417delinsAG
ENST00000643752.1:c.*159_*160delinsAG	ENSP00000495000.1:n.*159_*160delinsAG
ENST00000644088.1:c.*154_*155delinsAG	ENSP00000494066.1:n.*154_*155delinsAG
ENST00000644591.1:c.*159_*160delinsAG	ENSP00000496664.1:n.*159_*160delinsAG
ENST00000644895.1:c.*99+5770_*99+5771delinsAG	ENSP00000493872.1:n.*99+5770_*99+5771delinsAG
ENST00000645345.1:c.*405_*406delinsAG	ENSP00000495859.1:n.*405_*406delinsAG
ENST00000647524.1:c.*416_*417delinsAG	ENSP00000495077.1:n.*416_*417delinsAG
ENST00000373189.5:c.833_834delinsAG	ENSP00000362285.5:p.Gln278=
ENST00000469204.1:n.330_331delinsAG
NM_001174098.1:c.*62_*63delinsAG	NP_001167569.1:n.*62_*63delinsAG
NM_018344.5:c.833_834delinsAG	NP_060814.4:p.Gln278=
NR_033413.1:n.807_808delinsAG
NR_033414.1:n.580_581delinsAG
XM_006717910.2:c.599_600delinsAG	XP_006717973.1:p.Gln200=
NM_001363518.1:c.599_600delinsAG	NP_001350447.1:p.Gln200=
XM_017016377.2:c.395_396delinsAG	XP_016871866.1:p.Gln132=
XM_017016378.2:c.215_216delinsAG	XP_016871867.1:p.Gln72=
NM_018344.6:c.833_834delinsAG MANE Select	NP_060814.4:p.Gln278=
NM_001174098.2:c.*62_*63delinsAG	NP_001167569.1:n.*62_*63delinsAG
NM_001363518.2:c.599_600delinsAG	NP_001350447.1:p.Gln200=
NR_033413.2:n.801_802delinsAG
NR_033414.2:n.574_575delinsAG