Canonical Allele Identifier: CA2695198744

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2678783
• ClinVar RCV Id: RCV003472774

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392512del , CM000667.2:g.132392512del	GRCh38
NC_000005.9:g.131728204del , CM000667.1:g.131728204del	GRCh37
NC_000005.8:g.131756103del	NCBI36
NG_008982.1:g.27804del
NG_008982.2:g.27809del

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1188del	ENSP00000388838.2:p.Tyr396Ter
ENST00000435065.7:c.1419del	ENSP00000402760.2:p.Tyr473Ter
ENST00000448810.6:c.*199del	ENSP00000401860.2:n.*199del
ENST00000685543.1:n.1488del
ENST00000686757.1:c.*511del	ENSP00000510721.1:n.*511del
ENST00000687740.1:n.4032del
ENST00000688151.1:n.2657del
ENST00000689271.1:c.1194del	ENSP00000510797.1:p.Tyr398Ter
ENST00000690900.1:c.*511del	ENSP00000510703.1:n.*511del
ENST00000692212.1:n.4487del
ENST00000692355.1:c.600del
ENST00000692413.1:c.1329del	ENSP00000509374.1:p.Tyr443Ter
ENST00000692825.1:c.1415del	ENSP00000509447.1:n.1415del
ENST00000693308.1:c.1395del	ENSP00000509770.1:p.Tyr465Ter
ENST00000693763.1:n.2507del
ENST00000245407.8:c.1347del MANE Select	ENSP00000245407.3:p.Tyr449Ter
ENST00000245407.7:c.1347del	ENSP00000245407.3:p.Tyr449Ter
ENST00000435065.6:c.1419del	ENSP00000402760.2:p.Tyr473Ter
ENST00000447841.5:c.191del
ENST00000448810.5:c.609del
ENST00000461013.5:n.8769del
ENST00000475308.1:n.2025del
ENST00000479605.5:n.450del
NM_001308122.1:c.1419del	NP_001295051.1:p.Tyr473Ter
NM_003060.3:c.1347del	NP_003051.1:p.Tyr449Ter
XM_011543590.1:c.729del	XP_011541892.1:p.Tyr243Ter
XR_948290.1:n.1473del
XM_011543590.2:c.729del	XP_011541892.1:p.Tyr243Ter
XM_017009778.2:c.819del	XP_016865267.1:p.Tyr273Ter
XR_001742215.1:n.1602del
XR_001742216.1:n.1621del
XR_427718.2:n.1707del
XR_948290.2:n.1473del
XR_948291.2:n.1701del
NM_003060.4:c.1347del MANE Select	NP_003051.1:p.Tyr449Ter
NM_001308122.2:c.1419del	NP_001295051.1:p.Tyr473Ter