Canonical Allele Identifier: CA2573138869

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1451891
• ClinVar RCV Id: RCV002035412
• dbSNP Id: rs2126783993
• gnomAD v4: 5-132385472-CG-C

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1163del	ENSP00000388838.2:n.665+1163del
ENST00000435065.7:c.874del	ENSP00000402760.2:p.Val292CysfsTer28
ENST00000448810.6:c.802del	ENSP00000401860.2:p.Val268CysfsTer28
ENST00000686757.1:c.821del	ENSP00000510721.1:p.Gly274ValfsTer?
ENST00000687740.1:n.1962del
ENST00000688151.1:n.1994del
ENST00000689271.1:c.671+1157del	ENSP00000510797.1:n.671+1157del
ENST00000690900.1:c.773del	ENSP00000510703.1:p.Gly258ValfsTer?
ENST00000692212.1:n.628del
ENST00000692355.1:c.204+1176del
ENST00000692413.1:c.821del	ENSP00000509374.1:p.Gly274ValfsTer16
ENST00000692825.1:c.870del	ENSP00000509447.1:n.870del
ENST00000693308.1:c.815del	ENSP00000509770.1:p.Gly272ValfsTer?
ENST00000693763.1:n.1962del
ENST00000245407.8:c.802del MANE Select	ENSP00000245407.3:p.Val268CysfsTer28
ENST00000245407.7:c.802del	ENSP00000245407.3:p.Val268CysfsTer28
ENST00000415928.5:c.571del	ENSP00000388838.1:p.Val191CysfsTer28
ENST00000435065.6:c.874del	ENSP00000402760.2:p.Val292CysfsTer28
ENST00000437841.6:c.*117del	ENSP00000400553.1:n.*117del
ENST00000448810.5:c.150del
ENST00000461013.5:n.8224del
NM_001308122.1:c.874del	NP_001295051.1:p.Val292CysfsTer28
NM_003060.3:c.802del	NP_003051.1:p.Val268CysfsTer28
XM_011543590.1:c.184del	XP_011541892.1:p.Val62CysfsTer28
XR_427718.1:n.1162del
XR_948290.1:n.1143del
XR_948291.1:n.1156del
XM_011543590.2:c.184del	XP_011541892.1:p.Val62CysfsTer28
XM_017009778.2:c.274del	XP_016865267.1:p.Val92CysfsTer28
XR_001742215.1:n.1143del
XR_001742216.1:n.1162del
XR_427718.2:n.1162del
XR_948290.2:n.1143del
XR_948291.2:n.1156del
NM_003060.4:c.802del MANE Select	NP_003051.1:p.Val268CysfsTer28
NM_001308122.2:c.874del	NP_001295051.1:p.Val292CysfsTer28