Canonical Allele Identifier: CA312971

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 38790
• ClinVar RCV Id: RCV000022309 ; RCV000186155 ; RCV002226450 ; RCV003483445
• dbSNP Id: rs377767449
• ExAC: 5:131705914 T / TACCGGCTCGCC
• gnomAD v2: 5-131705914-T-TACCGGCTCGCC
• gnomAD v3: 5-132370222-T-TACCGGCTCGCC
• gnomAD v4: 5-132370222-T-TACCGGCTCGCC
• MyVariant Identifiers: chr5:g.131705918_131705928dupGGCTCGCCACC (hg19) ; chr5:g.131705914_131705915insACCGGCTCGCC (hg19) ; chr5:g.132370226_132370236dupGGCTCGCCACC (hg38) ; chr5:g.132370222_132370223insACCGGCTCGCC (hg38)
• PubMed: PMID:11715001 ; PMID:15714519 ; PMID:16652335 ; PMID:20574985 ; PMID:21922592 ; PMID:23379544

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132370226_132370236dup , CM000667.2:g.132370226_132370236dup	GRCh38
NC_000005.9:g.131705918_131705928dup , CM000667.1:g.131705918_131705928dup	GRCh37
NC_000005.8:g.131733817_131733827dup	NCBI36
NG_008982.1:g.5518_5528dup
NG_008982.2:g.5523_5533dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.254_264dup	ENSP00000388838.2:p.Ile89GlyfsTer?
ENST00000435065.7:c.254_264dup	ENSP00000402760.2:p.Ile89GlyfsTer?
ENST00000448810.6:c.254_264dup	ENSP00000401860.2:p.Ile89GlyfsTer?
ENST00000686757.1:c.254_264dup	ENSP00000510721.1:p.Ile89GlyfsTer?
ENST00000687740.1:n.388_398dup
ENST00000689271.1:c.254_264dup	ENSP00000510797.1:p.Ile89GlyfsTer?
ENST00000690900.1:c.254_264dup	ENSP00000510703.1:p.Ile89GlyfsTer?
ENST00000692413.1:c.254_264dup	ENSP00000509374.1:p.Ile89GlyfsTer?
ENST00000692825.1:c.254_264dup	ENSP00000509447.1:p.Ile89GlyfsTer?
ENST00000693308.1:c.254_264dup	ENSP00000509770.1:p.Ile89GlyfsTer?
ENST00000693763.1:n.388_398dup
ENST00000245407.8:c.254_264dup MANE Select	ENSP00000245407.3:p.Ile89GlyfsTer?
ENST00000245407.7:c.254_264dup	ENSP00000245407.3:p.Ile89GlyfsTer?
ENST00000435065.6:c.254_264dup	ENSP00000402760.2:p.Ile89GlyfsTer?
ENST00000437841.6:c.254_264dup	ENSP00000400553.1:p.Ile89GlyfsTer?
NM_001308122.1:c.254_264dup	NP_001295051.1:p.Ile89GlyfsTer?
NM_003060.3:c.254_264dup	NP_003051.1:p.Ile89GlyfsTer?
XR_427718.1:n.523_533dup
XR_948290.1:n.523_533dup
XR_948291.1:n.523_533dup
XM_011543590.2:c.-378_-368dup	XP_011541892.1:n.-378_-368dup
XR_001742215.1:n.523_533dup
XR_001742216.1:n.523_533dup
XR_427718.2:n.523_533dup
XR_948290.2:n.523_533dup
XR_948291.2:n.523_533dup
NM_003060.4:c.254_264dup MANE Select	NP_003051.1:p.Ile89GlyfsTer?
NM_001308122.2:c.254_264dup	NP_001295051.1:p.Ile89GlyfsTer?