Canonical Allele Identifier: CA2768436484
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390446_132390450del , CM000667.2:g.132390446_132390450del GRCh38
NC_000005.9:g.131726138_131726142del , CM000667.1:g.131726138_131726142del GRCh37
NC_000005.8:g.131754037_131754041del NCBI36
NG_008982.1:g.25738_25742del
NG_008982.2:g.25743_25747del

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.894-244_894-240del ENSP00000388838.2:n.894-244_894-240del
ENST00000435065.7:c.1125-244_1125-240del ENSP00000402760.2:n.1125-244_1125-240del
ENST00000448810.6:c.1053-330_1053-326del ENSP00000401860.2:n.1053-330_1053-326del
ENST00000685543.1:n.1194-244_1194-240del
ENST00000686757.1:c.*217-244_*217-240del ENSP00000510721.1:n.*217-244_*217-240del
ENST00000687740.1:n.3738-244_3738-240del
ENST00000688151.1:n.2363-244_2363-240del
ENST00000689271.1:c.900-244_900-240del ENSP00000510797.1:n.900-244_900-240del
ENST00000690900.1:c.*217-244_*217-240del ENSP00000510703.1:n.*217-244_*217-240del
ENST00000692212.1:n.2421_2425del
ENST00000692355.1:c.306-244_306-240del
ENST00000692413.1:c.1035-244_1035-240del ENSP00000509374.1:n.1035-244_1035-240del
ENST00000692825.1:c.1121-244_1121-240del ENSP00000509447.1:n.1121-244_1121-240del
ENST00000693308.1:c.1101-244_1101-240del ENSP00000509770.1:n.1101-244_1101-240del
ENST00000693763.1:n.2213-244_2213-240del
ENST00000245407.8:c.1053-244_1053-240del MANE Select ENSP00000245407.3:n.1053-244_1053-240del
ENST00000245407.7:c.1053-244_1053-240del ENSP00000245407.3:n.1053-244_1053-240del
ENST00000435065.6:c.1125-244_1125-240del ENSP00000402760.2:n.1125-244_1125-240del
ENST00000447841.5:c.111+1425_111+1429del
ENST00000448810.5:c.401-330_401-326del
ENST00000461013.5:n.8475-244_8475-240del
ENST00000475308.1:n.1487_1491del
ENST00000479605.5:n.156-244_156-240del
NM_001308122.1:c.1125-244_1125-240del NP_001295051.1:n.1125-244_1125-240del
NM_003060.3:c.1053-244_1053-240del NP_003051.1:n.1053-244_1053-240del
XM_011543590.1:c.435-244_435-240del XP_011541892.1:n.435-244_435-240del
XR_427718.1:n.1413-244_1413-240del
XR_948290.1:n.1393+1425_1393+1429del
XR_948291.1:n.1407-244_1407-240del
XM_011543590.2:c.435-244_435-240del XP_011541892.1:n.435-244_435-240del
XM_017009778.2:c.525-244_525-240del XP_016865267.1:n.525-244_525-240del
XR_001742215.1:n.1394-330_1394-326del
XR_001742216.1:n.1413-330_1413-326del
XR_427718.2:n.1413-244_1413-240del
XR_948290.2:n.1393+1425_1393+1429del
XR_948291.2:n.1407-244_1407-240del
NM_003060.4:c.1053-244_1053-240del MANE Select NP_003051.1:n.1053-244_1053-240del
NM_001308122.2:c.1125-244_1125-240del NP_001295051.1:n.1125-244_1125-240del