Canonical Allele Identifier: CA2580072654

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2002392
• ClinVar RCV Id: RCV002832963

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390901_132390902dup , CM000667.2:g.132390901_132390902dup	GRCh38
NC_000005.9:g.131726593_131726594dup , CM000667.1:g.131726593_131726594dup	GRCh37
NC_000005.8:g.131754492_131754493dup	NCBI36
NG_008982.1:g.26193_26194dup
NG_008982.2:g.26198_26199dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1105_1106dup	ENSP00000388838.2:p.Asp370GlnfsTer11
ENST00000435065.7:c.1336_1337dup	ENSP00000402760.2:p.Asp447GlnfsTer11
ENST00000448810.6:c.*116_*117dup	ENSP00000401860.2:n.*116_*117dup
ENST00000685543.1:n.1405_1406dup
ENST00000686757.1:c.*428_*429dup	ENSP00000510721.1:n.*428_*429dup
ENST00000687740.1:n.3949_3950dup
ENST00000688151.1:n.2574_2575dup
ENST00000689271.1:c.1111_1112dup	ENSP00000510797.1:p.Asp372GlnfsTer11
ENST00000690900.1:c.*428_*429dup	ENSP00000510703.1:n.*428_*429dup
ENST00000692212.1:n.2876_2877dup
ENST00000692355.1:c.517_518dup
ENST00000692413.1:c.1246_1247dup	ENSP00000509374.1:p.Asp417GlnfsTer11
ENST00000692825.1:c.1332_1333dup	ENSP00000509447.1:n.1332_1333dup
ENST00000693308.1:c.1312_1313dup	ENSP00000509770.1:p.Asp439GlnfsTer11
ENST00000693763.1:n.2424_2425dup
ENST00000245407.8:c.1264_1265dup MANE Select	ENSP00000245407.3:p.Asp423GlnfsTer11
ENST00000245407.7:c.1264_1265dup	ENSP00000245407.3:p.Asp423GlnfsTer11
ENST00000435065.6:c.1336_1337dup	ENSP00000402760.2:p.Asp447GlnfsTer11
ENST00000447841.5:c.112-1532_112-1531dup
ENST00000448810.5:c.526_527dup
ENST00000461013.5:n.8686_8687dup
ENST00000475308.1:n.1942_1943dup
ENST00000479605.5:n.367_368dup
NM_001308122.1:c.1336_1337dup	NP_001295051.1:p.Asp447GlnfsTer11
NM_003060.3:c.1264_1265dup	NP_003051.1:p.Asp423GlnfsTer11
XM_011543590.1:c.646_647dup	XP_011541892.1:p.Asp217GlnfsTer11
XR_427718.1:n.1624_1625dup
XR_948290.1:n.1394-1532_1394-1531dup
XR_948291.1:n.1618_1619dup
XM_011543590.2:c.646_647dup	XP_011541892.1:p.Asp217GlnfsTer11
XM_017009778.2:c.736_737dup	XP_016865267.1:p.Asp247GlnfsTer11
XR_001742215.1:n.1519_1520dup
XR_001742216.1:n.1538_1539dup
XR_427718.2:n.1624_1625dup
XR_948290.2:n.1394-1532_1394-1531dup
XR_948291.2:n.1618_1619dup
NM_003060.4:c.1264_1265dup MANE Select	NP_003051.1:p.Asp423GlnfsTer11
NM_001308122.2:c.1336_1337dup	NP_001295051.1:p.Asp447GlnfsTer11