Canonical Allele Identifier: CA658821387

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 551727
• ClinVar RCV Id: RCV000666861
• dbSNP Id: rs1554088578
• gnomAD v4: 5-132393778-CA-C
• MyVariant Identifiers: chr5:g.132393779del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393779del , CM000667.2:g.132393779del	GRCh38
NC_000005.9:g.131729471del , CM000667.1:g.131729471del	GRCh37
NC_000005.8:g.131757370del	NCBI36
NG_008982.1:g.29071del
NG_008982.2:g.29076del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-406del	ENSP00000388838.2:n.1292-406del
ENST00000435065.7:c.1626del	ENSP00000402760.2:p.Asp543ThrfsTer7
ENST00000448810.6:c.*406del	ENSP00000401860.2:n.*406del
ENST00000685543.1:n.1695del
ENST00000686757.1:c.*718del	ENSP00000510721.1:n.*718del
ENST00000686868.1:n.546del
ENST00000687740.1:n.4239del
ENST00000688151.1:n.2864del
ENST00000689271.1:c.1401del	ENSP00000510797.1:p.Asp468ThrfsTer7
ENST00000690900.1:c.*718del	ENSP00000510703.1:n.*718del
ENST00000692212.1:n.4694del
ENST00000692355.1:c.807del
ENST00000692413.1:c.1536del	ENSP00000509374.1:p.Asp513ThrfsTer7
ENST00000692825.1:c.1622del	ENSP00000509447.1:n.1622del
ENST00000693308.1:c.1602del	ENSP00000509770.1:p.Asp535ThrfsTer7
ENST00000693763.1:n.2714del
ENST00000245407.8:c.1554del MANE Select	ENSP00000245407.3:p.Asp519ThrfsTer7
ENST00000245407.7:c.1554del	ENSP00000245407.3:p.Asp519ThrfsTer7
ENST00000435065.6:c.1626del	ENSP00000402760.2:p.Asp543ThrfsTer7
ENST00000447841.5:c.398del
ENST00000448810.5:c.816del
ENST00000461013.5:n.8976del
ENST00000475308.1:n.2232del
NM_001308122.1:c.1626del	NP_001295051.1:p.Asp543ThrfsTer7
NM_003060.3:c.1554del	NP_003051.1:p.Asp519ThrfsTer7
XM_011543590.1:c.936del	XP_011541892.1:p.Asp313ThrfsTer7
XR_948290.1:n.1680del
XM_011543590.2:c.936del	XP_011541892.1:p.Asp313ThrfsTer7
XM_017009778.2:c.1026del	XP_016865267.1:p.Asp343ThrfsTer7
XR_001742215.1:n.1809del
XR_001742216.1:n.1828del
XR_427718.2:n.1914del
XR_948290.2:n.1680del
XR_948291.2:n.1908del
NM_003060.4:c.1554del MANE Select	NP_003051.1:p.Asp519ThrfsTer7
NM_001308122.2:c.1626del	NP_001295051.1:p.Asp543ThrfsTer7