Canonical Allele Identifier: CA3404191

Gene: SLC22A5

Linked Data

• dbSNP Id: rs761090705
• ExAC: 5:131729460 A / AC
• gnomAD v2: 5-131729460-A-AC
• gnomAD v4: 5-132393768-A-AC
• MyVariant Identifiers: chr5:g.131729460_131729461insC (hg19) ; chr5:g.132393768_132393769insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393772dup , CM000667.2:g.132393772dup	GRCh38
NC_000005.9:g.131729464dup , CM000667.1:g.131729464dup	GRCh37
NC_000005.8:g.131757363dup	NCBI36
NG_008982.1:g.29064dup
NG_008982.2:g.29069dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-413dup	ENSP00000388838.2:n.1292-413dup
ENST00000435065.7:c.1619dup	ENSP00000402760.2:p.Leu541ThrfsTer6
ENST00000448810.6:c.*399dup	ENSP00000401860.2:n.*399dup
ENST00000685543.1:n.1688dup
ENST00000686757.1:c.*711dup	ENSP00000510721.1:n.*711dup
ENST00000686868.1:n.539dup
ENST00000687740.1:n.4232dup
ENST00000688151.1:n.2857dup
ENST00000689271.1:c.1394dup	ENSP00000510797.1:p.Leu466ThrfsTer6
ENST00000690900.1:c.*711dup	ENSP00000510703.1:n.*711dup
ENST00000692212.1:n.4687dup
ENST00000692355.1:c.800dup
ENST00000692413.1:c.1529dup	ENSP00000509374.1:p.Leu511ThrfsTer6
ENST00000692825.1:c.1615dup	ENSP00000509447.1:n.1615dup
ENST00000693308.1:c.1595dup	ENSP00000509770.1:p.Leu533ThrfsTer6
ENST00000693763.1:n.2707dup
ENST00000245407.8:c.1547dup MANE Select	ENSP00000245407.3:p.Leu517ThrfsTer6
ENST00000245407.7:c.1547dup	ENSP00000245407.3:p.Leu517ThrfsTer6
ENST00000435065.6:c.1619dup	ENSP00000402760.2:p.Leu541ThrfsTer6
ENST00000447841.5:c.391dup
ENST00000448810.5:c.809dup
ENST00000461013.5:n.8969dup
ENST00000475308.1:n.2225dup
NM_001308122.1:c.1619dup	NP_001295051.1:p.Leu541ThrfsTer6
NM_003060.3:c.1547dup	NP_003051.1:p.Leu517ThrfsTer6
XM_011543590.1:c.929dup	XP_011541892.1:p.Leu311ThrfsTer6
XR_948290.1:n.1673dup
XM_011543590.2:c.929dup	XP_011541892.1:p.Leu311ThrfsTer6
XM_017009778.2:c.1019dup	XP_016865267.1:p.Leu341ThrfsTer6
XR_001742215.1:n.1802dup
XR_001742216.1:n.1821dup
XR_427718.2:n.1907dup
XR_948290.2:n.1673dup
XR_948291.2:n.1901dup
NM_003060.4:c.1547dup MANE Select	NP_003051.1:p.Leu517ThrfsTer6
NM_001308122.2:c.1619dup	NP_001295051.1:p.Leu541ThrfsTer6