Canonical Allele Identifier: CA2832548233

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385477dup , CM000667.2:g.132385477dup	GRCh38
NC_000005.9:g.131721169dup , CM000667.1:g.131721169dup	GRCh37
NC_000005.8:g.131749068dup	NCBI36
NG_008982.1:g.20769dup
NG_008982.2:g.20774dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1163dup	ENSP00000388838.2:n.665+1163dup
ENST00000435065.7:c.874dup	ENSP00000402760.2:p.Val292GlyfsTer12
ENST00000448810.6:c.802dup	ENSP00000401860.2:p.Val268GlyfsTer12
ENST00000686757.1:c.821dup	ENSP00000510721.1:p.Ala275CysfsTer28
ENST00000687740.1:n.1962dup
ENST00000688151.1:n.1994dup
ENST00000689271.1:c.671+1157dup	ENSP00000510797.1:n.671+1157dup
ENST00000690900.1:c.773dup	ENSP00000510703.1:p.Ala259CysfsTer28
ENST00000692212.1:n.628dup
ENST00000692355.1:c.204+1176dup
ENST00000692413.1:c.821dup	ENSP00000509374.1:p.Ala275CysfsTer11
ENST00000692825.1:c.870dup	ENSP00000509447.1:n.870dup
ENST00000693308.1:c.815dup	ENSP00000509770.1:p.Ala273CysfsTer12
ENST00000693763.1:n.1962dup
ENST00000245407.8:c.802dup MANE Select	ENSP00000245407.3:p.Val268GlyfsTer12
ENST00000245407.7:c.802dup	ENSP00000245407.3:p.Val268GlyfsTer12
ENST00000415928.5:c.571dup	ENSP00000388838.1:p.Val191GlyfsTer12
ENST00000435065.6:c.874dup	ENSP00000402760.2:p.Val292GlyfsTer12
ENST00000437841.6:c.*117dup	ENSP00000400553.1:n.*117dup
ENST00000448810.5:c.150dup
ENST00000461013.5:n.8224dup
NM_001308122.1:c.874dup	NP_001295051.1:p.Val292GlyfsTer12
NM_003060.3:c.802dup	NP_003051.1:p.Val268GlyfsTer12
XM_011543590.1:c.184dup	XP_011541892.1:p.Val62GlyfsTer12
XR_427718.1:n.1162dup
XR_948290.1:n.1143dup
XR_948291.1:n.1156dup
XM_011543590.2:c.184dup	XP_011541892.1:p.Val62GlyfsTer12
XM_017009778.2:c.274dup	XP_016865267.1:p.Val92GlyfsTer12
XR_001742215.1:n.1143dup
XR_001742216.1:n.1162dup
XR_427718.2:n.1162dup
XR_948290.2:n.1143dup
XR_948291.2:n.1156dup
NM_003060.4:c.802dup MANE Select	NP_003051.1:p.Val268GlyfsTer12
NM_001308122.2:c.874dup	NP_001295051.1:p.Val292GlyfsTer12