Canonical Allele Identifier: CA913108209
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132378396_132378399del , CM000667.2:g.132378396_132378399del GRCh38
NC_000005.9:g.131714088_131714091del , CM000667.1:g.131714088_131714091del GRCh37
NC_000005.8:g.131741987_131741990del NCBI36
NG_008982.1:g.13688_13691del
NG_008982.2:g.13693_13696del

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.412_415del ENSP00000388838.2:p.Asp138ThrfsTer?
ENST00000435065.7:c.484_487del ENSP00000402760.2:p.Asp162ThrfsTer?
ENST00000448810.6:c.412_415del ENSP00000401860.2:p.Asp138ThrfsTer?
ENST00000686757.1:c.412_415del ENSP00000510721.1:p.Asp138ThrfsTer?
ENST00000687740.1:n.546_549del
ENST00000689271.1:c.412_415del ENSP00000510797.1:p.Asp138ThrfsTer?
ENST00000690900.1:c.412_415del ENSP00000510703.1:p.Asp138ThrfsTer?
ENST00000692413.1:c.412_415del ENSP00000509374.1:p.Asp138ThrfsTer?
ENST00000692825.1:c.480_483del ENSP00000509447.1:n.480_483del
ENST00000693308.1:c.412_415del ENSP00000509770.1:p.Asp138ThrfsTer?
ENST00000693763.1:n.546_549del
ENST00000245407.8:c.412_415del MANE Select ENSP00000245407.3:p.Asp138ThrfsTer?
ENST00000245407.7:c.412_415del ENSP00000245407.3:p.Asp138ThrfsTer?
ENST00000415928.5:c.181_184del ENSP00000388838.1:p.Asp61ThrfsTer?
ENST00000435065.6:c.484_487del ENSP00000402760.2:p.Asp162ThrfsTer?
ENST00000437841.6:c.394-6932_394-6929del ENSP00000400553.1:n.394-6932_394-6929del
ENST00000461013.5:n.2169_2172del
NM_001308122.1:c.484_487del NP_001295051.1:p.Asp162ThrfsTer?
NM_003060.3:c.412_415del NP_003051.1:p.Asp138ThrfsTer?
XR_427718.1:n.753_756del
XR_948290.1:n.753_756del
XR_948291.1:n.753_756del
XM_011543590.2:c.-220_-217del XP_011541892.1:n.-220_-217del
XM_017009778.2:c.-31-5751_-31-5748del XP_016865267.1:n.-31-5751_-31-5748del
XR_001742215.1:n.753_756del
XR_001742216.1:n.753_756del
XR_427718.2:n.753_756del
XR_948290.2:n.753_756del
XR_948291.2:n.753_756del
NM_003060.4:c.412_415del MANE Select NP_003051.1:p.Asp138ThrfsTer?
NM_001308122.2:c.484_487del NP_001295051.1:p.Asp162ThrfsTer?