Canonical Allele Identifier: CA2695205166

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390781_132390799del , CM000667.2:g.132390781_132390799del	GRCh38
NC_000005.9:g.131726473_131726491del , CM000667.1:g.131726473_131726491del	GRCh37
NC_000005.8:g.131754372_131754390del	NCBI36
NG_008982.1:g.26073_26091del
NG_008982.2:g.26078_26096del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.985_1003del	ENSP00000388838.2:p.Val329CysfsTer?
ENST00000435065.7:c.1216_1234del	ENSP00000402760.2:p.Val406CysfsTer?
ENST00000448810.6:c.1058_*14del	ENSP00000401860.2:n.[c.1058_*14del;Gly353ValfsTer?]
ENST00000685543.1:n.1285_1303del
ENST00000686757.1:c.*308_*326del	ENSP00000510721.1:n.*308_*326del
ENST00000687740.1:n.3829_3847del
ENST00000688151.1:n.2454_2472del
ENST00000689271.1:c.991_1009del	ENSP00000510797.1:p.Val331CysfsTer?
ENST00000690900.1:c.*308_*326del	ENSP00000510703.1:n.*308_*326del
ENST00000692212.1:n.2756_2774del
ENST00000692355.1:c.397_415del
ENST00000692413.1:c.1126_1144del	ENSP00000509374.1:p.Val376CysfsTer?
ENST00000692825.1:c.1212_1230del	ENSP00000509447.1:n.1212_1230del
ENST00000693308.1:c.1192_1210del	ENSP00000509770.1:p.Val398CysfsTer?
ENST00000693763.1:n.2304_2322del
ENST00000245407.8:c.1144_1162del MANE Select	ENSP00000245407.3:p.Val382CysfsTer?
ENST00000245407.7:c.1144_1162del	ENSP00000245407.3:p.Val382CysfsTer?
ENST00000435065.6:c.1216_1234del	ENSP00000402760.2:p.Val406CysfsTer?
ENST00000447841.5:c.112-1652_112-1634del
ENST00000448810.5:c.406_424del
ENST00000461013.5:n.8566_8584del
ENST00000475308.1:n.1822_1840del
ENST00000479605.5:n.247_265del
NM_001308122.1:c.1216_1234del	NP_001295051.1:p.Val406CysfsTer?
NM_003060.3:c.1144_1162del	NP_003051.1:p.Val382CysfsTer?
XM_011543590.1:c.526_544del	XP_011541892.1:p.Val176CysfsTer?
XR_427718.1:n.1504_1522del
XR_948290.1:n.1394-1652_1394-1634del
XR_948291.1:n.1498_1516del
XM_011543590.2:c.526_544del	XP_011541892.1:p.Val176CysfsTer?
XM_017009778.2:c.616_634del	XP_016865267.1:p.Val206CysfsTer?
XR_001742215.1:n.1399_1417del
XR_001742216.1:n.1418_1436del
XR_427718.2:n.1504_1522del
XR_948290.2:n.1394-1652_1394-1634del
XR_948291.2:n.1498_1516del
NM_003060.4:c.1144_1162del MANE Select	NP_003051.1:p.Val382CysfsTer?
NM_001308122.2:c.1216_1234del	NP_001295051.1:p.Val406CysfsTer?