Canonical Allele Identifier: CA2555484773
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132370028_132370045dup , CM000667.2:g.132370028_132370045dup GRCh38
NC_000005.9:g.131705720_131705737dup , CM000667.1:g.131705720_131705737dup GRCh37
NC_000005.8:g.131733619_131733636dup NCBI36
NG_008982.1:g.5320_5337dup
NG_008982.2:g.5325_5342dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.56_73dup ENSP00000388838.2:p.Leu24_Leu25insArgLeuIlePhePheLeu
ENST00000435065.7:c.56_73dup ENSP00000402760.2:p.Leu24_Leu25insArgLeuIlePhePheLeu
ENST00000448810.6:c.56_73dup ENSP00000401860.2:p.Leu24_Leu25insArgLeuIlePhePheLeu
ENST00000686757.1:c.56_73dup ENSP00000510721.1:p.Leu24_Leu25insArgLeuIlePhePheLeu
ENST00000687740.1:n.190_207dup
ENST00000689271.1:c.56_73dup ENSP00000510797.1:p.Leu24_Leu25insArgLeuIlePhePheLeu
ENST00000690900.1:c.56_73dup ENSP00000510703.1:p.Leu24_Leu25insArgLeuIlePhePheLeu
ENST00000692413.1:c.56_73dup ENSP00000509374.1:p.Leu24_Leu25insArgLeuIlePhePheLeu
ENST00000692825.1:c.56_73dup ENSP00000509447.1:p.Leu24_Leu25insArgLeuIlePhePheLeu
ENST00000693308.1:c.56_73dup ENSP00000509770.1:p.Leu24_Leu25insArgLeuIlePhePheLeu
ENST00000693763.1:n.190_207dup
ENST00000245407.8:c.56_73dup MANE Select ENSP00000245407.3:p.Leu24_Leu25insArgLeuIlePhePheLeu
ENST00000245407.7:c.56_73dup ENSP00000245407.3:p.Leu24_Leu25insArgLeuIlePhePheLeu
ENST00000435065.6:c.56_73dup ENSP00000402760.2:p.Leu24_Leu25insArgLeuIlePhePheLeu
ENST00000437841.6:c.56_73dup ENSP00000400553.1:p.Leu24_Leu25insArgLeuIlePhePheLeu
NM_001308122.1:c.56_73dup NP_001295051.1:p.Leu24_Leu25insArgLeuIlePhePheLeu
NM_003060.3:c.56_73dup NP_003051.1:p.Leu24_Leu25insArgLeuIlePhePheLeu
XR_427718.1:n.325_342dup
XR_948290.1:n.325_342dup
XR_948291.1:n.325_342dup
XR_001742215.1:n.325_342dup
XR_001742216.1:n.325_342dup
XR_427718.2:n.325_342dup
XR_948290.2:n.325_342dup
XR_948291.2:n.325_342dup
NM_003060.4:c.56_73dup MANE Select NP_003051.1:p.Leu24_Leu25insArgLeuIlePhePheLeu
NM_001308122.2:c.56_73dup NP_001295051.1:p.Leu24_Leu25insArgLeuIlePhePheLeu