Canonical Allele Identifier: CA1583151797

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392489_132392490delinsGC , CM000667.2:g.132392489_132392490delinsGC	GRCh38
NC_000005.9:g.131728181_131728182delinsGC , CM000667.1:g.131728181_131728182delinsGC	GRCh37
NC_000005.8:g.131756080_131756081delinsGC	NCBI36
NG_008982.1:g.27781_27782delinsGC
NG_008982.2:g.27786_27787delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1165_1166delinsGC	ENSP00000388838.2:p.Ala389=
ENST00000435065.7:c.1396_1397delinsGC	ENSP00000402760.2:p.Ala466=
ENST00000448810.6:c.*176_*177delinsGC	ENSP00000401860.2:n.*176_*177delinsGC
ENST00000685543.1:n.1465_1466delinsGC
ENST00000686757.1:c.*488_*489delinsGC	ENSP00000510721.1:n.*488_*489delinsGC
ENST00000687740.1:n.4009_4010delinsGC
ENST00000688151.1:n.2634_2635delinsGC
ENST00000689271.1:c.1171_1172delinsGC	ENSP00000510797.1:p.Ala391=
ENST00000690900.1:c.*488_*489delinsGC	ENSP00000510703.1:n.*488_*489delinsGC
ENST00000692212.1:n.4464_4465delinsGC
ENST00000692355.1:c.577_578delinsGC
ENST00000692413.1:c.1306_1307delinsGC	ENSP00000509374.1:p.Ala436=
ENST00000692825.1:c.1392_1393delinsGC	ENSP00000509447.1:n.1392_1393delinsGC
ENST00000693308.1:c.1372_1373delinsGC	ENSP00000509770.1:p.Ala458=
ENST00000693763.1:n.2484_2485delinsGC
ENST00000245407.8:c.1324_1325delinsGC MANE Select	ENSP00000245407.3:p.Ala442=
ENST00000245407.7:c.1324_1325delinsGC	ENSP00000245407.3:p.Ala442=
ENST00000435065.6:c.1396_1397delinsGC	ENSP00000402760.2:p.Ala466=
ENST00000447841.5:c.168_169delinsGC
ENST00000448810.5:c.586_587delinsGC
ENST00000461013.5:n.8746_8747delinsGC
ENST00000475308.1:n.2002_2003delinsGC
ENST00000479605.5:n.427_428delinsGC
NM_001308122.1:c.1396_1397delinsGC	NP_001295051.1:p.Ala466=
NM_003060.3:c.1324_1325delinsGC	NP_003051.1:p.Ala442=
XM_011543590.1:c.706_707delinsGC	XP_011541892.1:p.Ala236=
XR_948290.1:n.1450_1451delinsGC
XM_011543590.2:c.706_707delinsGC	XP_011541892.1:p.Ala236=
XM_017009778.2:c.796_797delinsGC	XP_016865267.1:p.Ala266=
XR_001742215.1:n.1579_1580delinsGC
XR_001742216.1:n.1598_1599delinsGC
XR_427718.2:n.1684_1685delinsGC
XR_948290.2:n.1450_1451delinsGC
XR_948291.2:n.1678_1679delinsGC
NM_003060.4:c.1324_1325delinsGC MANE Select	NP_003051.1:p.Ala442=
NM_001308122.2:c.1396_1397delinsGC	NP_001295051.1:p.Ala466=