Canonical Allele Identifier: CA342673

Gene: SLC22A5

Linked Data

• dbSNP Id: rs386134216
• MyVariant Identifiers: chr5:g.131726599_131726619del (hg19) ; chr5:g.132390907_132390927del (hg38)
• PubMed: PMID:15714519

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390907_132390927del , CM000667.2:g.132390907_132390927del	GRCh38
NC_000005.9:g.131726599_131726619del , CM000667.1:g.131726599_131726619del	GRCh37
NC_000005.8:g.131754498_131754518del	NCBI36
NG_008982.1:g.26199_26219del
NG_008982.2:g.26204_26224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1108+3_1108+23del	ENSP00000388838.2:n.1108+3_1108+23del
ENST00000435065.7:c.1339+3_1339+23del	ENSP00000402760.2:n.1339+3_1339+23del
ENST00000448810.6:c.*119+3_*119+23del	ENSP00000401860.2:n.*119+3_*119+23del
ENST00000685543.1:n.1408+3_1408+23del
ENST00000686757.1:c.*431+3_*431+23del	ENSP00000510721.1:n.*431+3_*431+23del
ENST00000687740.1:n.3952+3_3952+23del
ENST00000688151.1:n.2577+3_2577+23del
ENST00000689271.1:c.1114+3_1114+23del	ENSP00000510797.1:n.1114+3_1114+23del
ENST00000690900.1:c.*431+3_*431+23del	ENSP00000510703.1:n.*431+3_*431+23del
ENST00000692212.1:n.2882_2902del
ENST00000692355.1:c.520+3_520+23del
ENST00000692413.1:c.1249+3_1249+23del	ENSP00000509374.1:n.1249+3_1249+23del
ENST00000692825.1:c.1335+3_1335+23del	ENSP00000509447.1:n.1335+3_1335+23del
ENST00000693308.1:c.1315+3_1315+23del	ENSP00000509770.1:n.1315+3_1315+23del
ENST00000693763.1:n.2427+3_2427+23del
ENST00000245407.8:c.1267+3_1267+23del MANE Select	ENSP00000245407.3:n.1267+3_1267+23del
ENST00000245407.7:c.1267+3_1267+23del	ENSP00000245407.3:n.1267+3_1267+23del
ENST00000435065.6:c.1339+3_1339+23del	ENSP00000402760.2:n.1339+3_1339+23del
ENST00000447841.5:c.112-1526_112-1506del
ENST00000448810.5:c.529+3_529+23del
ENST00000461013.5:n.8689+3_8689+23del
ENST00000475308.1:n.1945+3_1945+23del
ENST00000479605.5:n.370+3_370+23del
NM_001308122.1:c.1339+3_1339+23del	NP_001295051.1:n.1339+3_1339+23del
NM_003060.3:c.1267+3_1267+23del	NP_003051.1:n.1267+3_1267+23del
XM_011543590.1:c.649+3_649+23del	XP_011541892.1:n.649+3_649+23del
XR_427718.1:n.1627+3_1627+23del
XR_948290.1:n.1394-1526_1394-1506del
XR_948291.1:n.1621+3_1621+23del
XM_011543590.2:c.649+3_649+23del	XP_011541892.1:n.649+3_649+23del
XM_017009778.2:c.739+3_739+23del	XP_016865267.1:n.739+3_739+23del
XR_001742215.1:n.1522+3_1522+23del
XR_001742216.1:n.1541+3_1541+23del
XR_427718.2:n.1627+3_1627+23del
XR_948290.2:n.1394-1526_1394-1506del
XR_948291.2:n.1621+3_1621+23del
NM_003060.4:c.1267+3_1267+23del MANE Select	NP_003051.1:n.1267+3_1267+23del
NM_001308122.2:c.1339+3_1339+23del	NP_001295051.1:n.1339+3_1339+23del