Canonical Allele Identifier: CA2695198738

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2678803
• ClinVar RCV Id: RCV003472794

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132378392_132378393dup , CM000667.2:g.132378392_132378393dup	GRCh38
NC_000005.9:g.131714084_131714085dup , CM000667.1:g.131714084_131714085dup	GRCh37
NC_000005.8:g.131741983_131741984dup	NCBI36
NG_008982.1:g.13684_13685dup
NG_008982.2:g.13689_13690dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.408_409dup	ENSP00000388838.2:p.Glu137ValfsTer?
ENST00000435065.7:c.480_481dup	ENSP00000402760.2:p.Glu161ValfsTer?
ENST00000448810.6:c.408_409dup	ENSP00000401860.2:p.Glu137ValfsTer?
ENST00000686757.1:c.408_409dup	ENSP00000510721.1:p.Glu137ValfsTer?
ENST00000687740.1:n.542_543dup
ENST00000689271.1:c.408_409dup	ENSP00000510797.1:p.Glu137ValfsTer?
ENST00000690900.1:c.408_409dup	ENSP00000510703.1:p.Glu137ValfsTer?
ENST00000692413.1:c.408_409dup	ENSP00000509374.1:p.Glu137ValfsTer?
ENST00000692825.1:c.476_477dup	ENSP00000509447.1:n.476_477dup
ENST00000693308.1:c.408_409dup	ENSP00000509770.1:p.Glu137ValfsTer?
ENST00000693763.1:n.542_543dup
ENST00000245407.8:c.408_409dup MANE Select	ENSP00000245407.3:p.Glu137ValfsTer?
ENST00000245407.7:c.408_409dup	ENSP00000245407.3:p.Glu137ValfsTer?
ENST00000415928.5:c.177_178dup	ENSP00000388838.1:p.Glu60ValfsTer?
ENST00000435065.6:c.480_481dup	ENSP00000402760.2:p.Glu161ValfsTer?
ENST00000437841.6:c.394-6936_394-6935dup	ENSP00000400553.1:n.394-6936_394-6935dup
ENST00000461013.5:n.2165_2166dup
NM_001308122.1:c.480_481dup	NP_001295051.1:p.Glu161ValfsTer?
NM_003060.3:c.408_409dup	NP_003051.1:p.Glu137ValfsTer?
XR_427718.1:n.749_750dup
XR_948290.1:n.749_750dup
XR_948291.1:n.749_750dup
XM_011543590.2:c.-224_-223dup	XP_011541892.1:n.-224_-223dup
XM_017009778.2:c.-31-5755_-31-5754dup	XP_016865267.1:n.-31-5755_-31-5754dup
XR_001742215.1:n.749_750dup
XR_001742216.1:n.749_750dup
XR_427718.2:n.749_750dup
XR_948290.2:n.749_750dup
XR_948291.2:n.749_750dup
NM_003060.4:c.408_409dup MANE Select	NP_003051.1:p.Glu137ValfsTer?
NM_001308122.2:c.480_481dup	NP_001295051.1:p.Glu161ValfsTer?