Canonical Allele Identifier: CA16040982

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 370975
• ClinVar RCV Id: RCV000412234
• dbSNP Id: rs761090705
• MyVariant Identifiers: chr5:g.131729464del (hg19) ; chr5:g.132393772del (hg38)
• PubMed: PMID:15523054

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-413del	ENSP00000388838.2:n.1292-413del
ENST00000435065.7:c.1619del	ENSP00000402760.2:p.Pro540HisfsTer10
ENST00000448810.6:c.*399del	ENSP00000401860.2:n.*399del
ENST00000685543.1:n.1688del
ENST00000686757.1:c.*711del	ENSP00000510721.1:n.*711del
ENST00000686868.1:n.539del
ENST00000687740.1:n.4232del
ENST00000688151.1:n.2857del
ENST00000689271.1:c.1394del	ENSP00000510797.1:p.Pro465HisfsTer10
ENST00000690900.1:c.*711del	ENSP00000510703.1:n.*711del
ENST00000692212.1:n.4687del
ENST00000692355.1:c.800del
ENST00000692413.1:c.1529del	ENSP00000509374.1:p.Pro510HisfsTer10
ENST00000692825.1:c.1615del	ENSP00000509447.1:n.1615del
ENST00000693308.1:c.1595del	ENSP00000509770.1:p.Pro532HisfsTer10
ENST00000693763.1:n.2707del
ENST00000245407.8:c.1547del MANE Select	ENSP00000245407.3:p.Pro516HisfsTer10
ENST00000245407.7:c.1547del	ENSP00000245407.3:p.Pro516HisfsTer10
ENST00000435065.6:c.1619del	ENSP00000402760.2:p.Pro540HisfsTer10
ENST00000447841.5:c.391del
ENST00000448810.5:c.809del
ENST00000461013.5:n.8969del
ENST00000475308.1:n.2225del
NM_001308122.1:c.1619del	NP_001295051.1:p.Pro540HisfsTer10
NM_003060.3:c.1547del	NP_003051.1:p.Pro516HisfsTer10
XM_011543590.1:c.929del	XP_011541892.1:p.Pro310HisfsTer10
XR_948290.1:n.1673del
XM_011543590.2:c.929del	XP_011541892.1:p.Pro310HisfsTer10
XM_017009778.2:c.1019del	XP_016865267.1:p.Pro340HisfsTer10
XR_001742215.1:n.1802del
XR_001742216.1:n.1821del
XR_427718.2:n.1907del
XR_948290.2:n.1673del
XR_948291.2:n.1901del
NM_003060.4:c.1547del MANE Select	NP_003051.1:p.Pro516HisfsTer10
NM_001308122.2:c.1619del	NP_001295051.1:p.Pro540HisfsTer10