Canonical Allele Identifier: CA913108215
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132369984_132369985del , CM000667.2:g.132369984_132369985del GRCh38
NC_000005.9:g.131705676_131705677del , CM000667.1:g.131705676_131705677del GRCh37
NC_000005.8:g.131733575_131733576del NCBI36
NG_008982.1:g.5276_5277del
NG_008982.2:g.5281_5282del

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.12_13del ENSP00000388838.2:p.Tyr4Ter
ENST00000435065.7:c.12_13del ENSP00000402760.2:p.Tyr4Ter
ENST00000448810.6:c.12_13del ENSP00000401860.2:p.Tyr4Ter
ENST00000686757.1:c.12_13del ENSP00000510721.1:p.Tyr4Ter
ENST00000687740.1:n.146_147del
ENST00000689271.1:c.12_13del ENSP00000510797.1:p.Tyr4Ter
ENST00000690900.1:c.12_13del ENSP00000510703.1:p.Tyr4Ter
ENST00000692413.1:c.12_13del ENSP00000509374.1:p.Tyr4Ter
ENST00000692825.1:c.12_13del ENSP00000509447.1:p.Tyr4Ter
ENST00000693308.1:c.12_13del ENSP00000509770.1:p.Tyr4Ter
ENST00000693763.1:n.146_147del
ENST00000245407.8:c.12_13del MANE Select ENSP00000245407.3:p.Tyr4Ter
ENST00000245407.7:c.12_13del ENSP00000245407.3:p.Tyr4Ter
ENST00000435065.6:c.12_13del ENSP00000402760.2:p.Tyr4Ter
ENST00000437841.6:c.12_13del ENSP00000400553.1:p.Tyr4Ter
NM_001308122.1:c.12_13del NP_001295051.1:p.Tyr4Ter
NM_003060.3:c.12_13del NP_003051.1:p.Tyr4Ter
XR_427718.1:n.281_282del
XR_948290.1:n.281_282del
XR_948291.1:n.281_282del
XR_001742215.1:n.281_282del
XR_001742216.1:n.281_282del
XR_427718.2:n.281_282del
XR_948290.2:n.281_282del
XR_948291.2:n.281_282del
NM_003060.4:c.12_13del MANE Select NP_003051.1:p.Tyr4Ter
NM_001308122.2:c.12_13del NP_001295051.1:p.Tyr4Ter