Canonical Allele Identifier: CA1583144556
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393768_132393769delinsAC , CM000667.2:g.132393768_132393769delinsAC GRCh38
NC_000005.9:g.131729460_131729461delinsAC , CM000667.1:g.131729460_131729461delinsAC GRCh37
NC_000005.8:g.131757359_131757360delinsAC NCBI36
NG_008982.1:g.29060_29061delinsAC
NG_008982.2:g.29065_29066delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-417_1292-416delinsAC ENSP00000388838.2:n.1292-417_1292-416delinsAC
ENST00000435065.7:c.1615_1616delinsAC ENSP00000402760.2:p.Thr539=
ENST00000448810.6:c.*395_*396delinsAC ENSP00000401860.2:n.*395_*396delinsAC
ENST00000685543.1:n.1684_1685delinsAC
ENST00000686757.1:c.*707_*708delinsAC ENSP00000510721.1:n.*707_*708delinsAC
ENST00000686868.1:n.535_536delinsAC
ENST00000687740.1:n.4228_4229delinsAC
ENST00000688151.1:n.2853_2854delinsAC
ENST00000689271.1:c.1390_1391delinsAC ENSP00000510797.1:p.Thr464=
ENST00000690900.1:c.*707_*708delinsAC ENSP00000510703.1:n.*707_*708delinsAC
ENST00000692212.1:n.4683_4684delinsAC
ENST00000692355.1:c.796_797delinsAC
ENST00000692413.1:c.1525_1526delinsAC ENSP00000509374.1:p.Thr509=
ENST00000692825.1:c.1611_1612delinsAC ENSP00000509447.1:n.1611_1612delinsAC
ENST00000693308.1:c.1591_1592delinsAC ENSP00000509770.1:p.Thr531=
ENST00000693763.1:n.2703_2704delinsAC
ENST00000245407.8:c.1543_1544delinsAC MANE Select ENSP00000245407.3:p.Thr515=
ENST00000245407.7:c.1543_1544delinsAC ENSP00000245407.3:p.Thr515=
ENST00000435065.6:c.1615_1616delinsAC ENSP00000402760.2:p.Thr539=
ENST00000447841.5:c.387_388delinsAC
ENST00000448810.5:c.805_806delinsAC
ENST00000461013.5:n.8965_8966delinsAC
ENST00000475308.1:n.2221_2222delinsAC
NM_001308122.1:c.1615_1616delinsAC NP_001295051.1:p.Thr539=
NM_003060.3:c.1543_1544delinsAC NP_003051.1:p.Thr515=
XM_011543590.1:c.925_926delinsAC XP_011541892.1:p.Thr309=
XR_948290.1:n.1669_1670delinsAC
XM_011543590.2:c.925_926delinsAC XP_011541892.1:p.Thr309=
XM_017009778.2:c.1015_1016delinsAC XP_016865267.1:p.Thr339=
XR_001742215.1:n.1798_1799delinsAC
XR_001742216.1:n.1817_1818delinsAC
XR_427718.2:n.1903_1904delinsAC
XR_948290.2:n.1669_1670delinsAC
XR_948291.2:n.1897_1898delinsAC
NM_003060.4:c.1543_1544delinsAC MANE Select NP_003051.1:p.Thr515=
NM_001308122.2:c.1615_1616delinsAC NP_001295051.1:p.Thr539=