Canonical Allele Identifier: CA2740684082

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390893_132390894insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA , CM000667.2:g.132390893_132390894insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA	GRCh38
NC_000005.9:g.131726585_131726586insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA , CM000667.1:g.131726585_131726586insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA	GRCh37
NC_000005.8:g.131754484_131754485insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA	NCBI36
NG_008982.1:g.26185_26186insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA
NG_008982.2:g.26190_26191insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1097_1098insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA	ENSP00000388838.2:p.Val367TyrfsTer?
ENST00000435065.7:c.1328_1329insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA	ENSP00000402760.2:p.Val444TyrfsTer?
ENST00000448810.6:c.*108_*109insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA	ENSP00000401860.2:n.*108_*109insCTACATGGGTCTGTCTGGCTGCTGCATGG...
ENST00000685543.1:n.1397_1398insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA
ENST00000686757.1:c.*420_*421insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA	ENSP00000510721.1:n.*420_*421insCTACATGGGTCTGTCTGGCTGCTGCATGG...
ENST00000687740.1:n.3941_3942insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA
ENST00000688151.1:n.2566_2567insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA
ENST00000689271.1:c.1103_1104insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA	ENSP00000510797.1:p.Val369TyrfsTer?
ENST00000690900.1:c.*420_*421insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA	ENSP00000510703.1:n.*420_*421insCTACATGGGTCTGTCTGGCTGCTGCATGG...
ENST00000692212.1:n.2868_2869insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA
ENST00000692355.1:c.509_510insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA
ENST00000692413.1:c.1238_1239insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA	ENSP00000509374.1:p.Val414TyrfsTer?
ENST00000692825.1:c.1324_1325insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA	ENSP00000509447.1:n.1324_1325insCTACATGGGTCTGTCTGGCTGCTGCATGG...
ENST00000693308.1:c.1304_1305insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA	ENSP00000509770.1:p.Val436TyrfsTer?
ENST00000693763.1:n.2416_2417insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA
ENST00000245407.8:c.1256_1257insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA MANE Select	ENSP00000245407.3:p.Val420TyrfsTer?
ENST00000245407.7:c.1256_1257insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA	ENSP00000245407.3:p.Val420TyrfsTer?
ENST00000435065.6:c.1328_1329insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA	ENSP00000402760.2:p.Val444TyrfsTer?
ENST00000447841.5:c.112-1540_112-1539insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA
ENST00000448810.5:c.518_519insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA
ENST00000461013.5:n.8678_8679insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA
ENST00000475308.1:n.1934_1935insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA
ENST00000479605.5:n.359_360insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA
NM_001308122.1:c.1328_1329insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA	NP_001295051.1:p.Val444TyrfsTer?
NM_003060.3:c.1256_1257insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA	NP_003051.1:p.Val420TyrfsTer?
XM_011543590.1:c.638_639insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA	XP_011541892.1:p.Val214TyrfsTer?
XR_427718.1:n.1616_1617insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA
XR_948290.1:n.1394-1540_1394-1539insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA
XR_948291.1:n.1610_1611insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA
XM_011543590.2:c.638_639insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA	XP_011541892.1:p.Val214TyrfsTer?
XM_017009778.2:c.728_729insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA	XP_016865267.1:p.Val244TyrfsTer?
XR_001742215.1:n.1511_1512insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA
XR_001742216.1:n.1530_1531insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA
XR_427718.2:n.1616_1617insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA
XR_948290.2:n.1394-1540_1394-1539insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA
XR_948291.2:n.1610_1611insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA
NM_003060.4:c.1256_1257insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA MANE Select	NP_003051.1:p.Val420TyrfsTer?
NM_001308122.2:c.1328_1329insCTACATGGGTCTGTCTGGCTGCTGCATGGGACTTAGATTGTGGCGGGGA	NP_001295051.1:p.Val444TyrfsTer?