Canonical Allele Identifier: CA2675199940

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132378400-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132378401del , CM000667.2:g.132378401del	GRCh38
NC_000005.9:g.131714093del , CM000667.1:g.131714093del	GRCh37
NC_000005.8:g.131741992del	NCBI36
NG_008982.1:g.13693del
NG_008982.2:g.13698del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.417del	ENSP00000388838.2:p.Trp140GlyfsTer?
ENST00000435065.7:c.489del	ENSP00000402760.2:p.Trp164GlyfsTer?
ENST00000448810.6:c.417del	ENSP00000401860.2:p.Trp140GlyfsTer?
ENST00000686757.1:c.417del	ENSP00000510721.1:p.Trp140GlyfsTer?
ENST00000687740.1:n.551del
ENST00000689271.1:c.417del	ENSP00000510797.1:p.Trp140GlyfsTer?
ENST00000690900.1:c.417del	ENSP00000510703.1:p.Trp140GlyfsTer?
ENST00000692413.1:c.417del	ENSP00000509374.1:p.Trp140GlyfsTer?
ENST00000692825.1:c.485del	ENSP00000509447.1:n.485del
ENST00000693308.1:c.417del	ENSP00000509770.1:p.Trp140GlyfsTer?
ENST00000693763.1:n.551del
ENST00000245407.8:c.417del MANE Select	ENSP00000245407.3:p.Trp140GlyfsTer?
ENST00000245407.7:c.417del	ENSP00000245407.3:p.Trp140GlyfsTer?
ENST00000415928.5:c.186del	ENSP00000388838.1:p.Trp63GlyfsTer?
ENST00000435065.6:c.489del	ENSP00000402760.2:p.Trp164GlyfsTer?
ENST00000437841.6:c.394-6927del	ENSP00000400553.1:n.394-6927del
ENST00000461013.5:n.2174del
NM_001308122.1:c.489del	NP_001295051.1:p.Trp164GlyfsTer?
NM_003060.3:c.417del	NP_003051.1:p.Trp140GlyfsTer?
XR_427718.1:n.758del
XR_948290.1:n.758del
XR_948291.1:n.758del
XM_011543590.2:c.-215del	XP_011541892.1:n.-215del
XM_017009778.2:c.-31-5746del	XP_016865267.1:n.-31-5746del
XR_001742215.1:n.758del
XR_001742216.1:n.758del
XR_427718.2:n.758del
XR_948290.2:n.758del
XR_948291.2:n.758del
NM_003060.4:c.417del MANE Select	NP_003051.1:p.Trp140GlyfsTer?
NM_001308122.2:c.489del	NP_001295051.1:p.Trp164GlyfsTer?