Canonical Allele Identifier: CA1583144567

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385360_132385363delinsATAT , CM000667.2:g.132385360_132385363delinsATAT	GRCh38
NC_000005.9:g.131721052_131721055delinsATAT , CM000667.1:g.131721052_131721055delinsATAT	GRCh37
NC_000005.8:g.131748951_131748954delinsATAT	NCBI36
NG_008982.1:g.20652_20655delinsATAT
NG_008982.2:g.20657_20660delinsATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1046_665+1049delinsATAT	ENSP00000388838.2:n.665+1046_665+1049delinsATAT
ENST00000435065.7:c.757_760delinsATAT	ENSP00000402760.2:p.Ile253=
ENST00000448810.6:c.685_688delinsATAT	ENSP00000401860.2:p.Ile229=
ENST00000686757.1:c.704_707delinsATAT	ENSP00000510721.1:p.Asn235=
ENST00000687740.1:n.1845_1848delinsATAT
ENST00000688151.1:n.1877_1880delinsATAT
ENST00000689271.1:c.671+1040_671+1043delinsATAT	ENSP00000510797.1:n.671+1040_671+1043delinsATAT
ENST00000690900.1:c.672-16_672-13delinsATAT	ENSP00000510703.1:n.672-16_672-13delinsATAT
ENST00000692212.1:n.511_514delinsATAT
ENST00000692355.1:c.204+1059_204+1062delinsATAT
ENST00000692413.1:c.704_707delinsATAT	ENSP00000509374.1:p.Asn235=
ENST00000692825.1:c.753_756delinsATAT	ENSP00000509447.1:n.753_756delinsATAT
ENST00000693308.1:c.698_701delinsATAT	ENSP00000509770.1:p.Asn233=
ENST00000693763.1:n.1845_1848delinsATAT
ENST00000245407.8:c.685_688delinsATAT MANE Select	ENSP00000245407.3:p.Ile229=
ENST00000245407.7:c.685_688delinsATAT	ENSP00000245407.3:p.Ile229=
ENST00000415928.5:c.454_457delinsATAT	ENSP00000388838.1:p.Ile152=
ENST00000435065.6:c.757_760delinsATAT	ENSP00000402760.2:p.Ile253=
ENST00000437841.6:c.426_*3delinsATAT	ENSP00000400553.1:n.[c.426_*3delinsATAT;Ter142=]
ENST00000448810.5:c.33_36delinsATAT
ENST00000461013.5:n.8107_8110delinsATAT
NM_001308122.1:c.757_760delinsATAT	NP_001295051.1:p.Ile253=
NM_003060.3:c.685_688delinsATAT	NP_003051.1:p.Ile229=
XM_011543590.1:c.67_70delinsATAT	XP_011541892.1:p.Ile23=
XR_427718.1:n.1045_1048delinsATAT
XR_948290.1:n.1026_1029delinsATAT
XR_948291.1:n.1039_1042delinsATAT
XM_011543590.2:c.67_70delinsATAT	XP_011541892.1:p.Ile23=
XM_017009778.2:c.157_160delinsATAT	XP_016865267.1:p.Ile53=
XR_001742215.1:n.1026_1029delinsATAT
XR_001742216.1:n.1045_1048delinsATAT
XR_427718.2:n.1045_1048delinsATAT
XR_948290.2:n.1026_1029delinsATAT
XR_948291.2:n.1039_1042delinsATAT
NM_003060.4:c.685_688delinsATAT MANE Select	NP_003051.1:p.Ile229=
NM_001308122.2:c.757_760delinsATAT	NP_001295051.1:p.Ile253=