Canonical Allele Identifier: CA2604424925

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2678790
• ClinVar RCV Id: RCV003472781
• gnomAD v3: 5-132384165-GC-G
• gnomAD v4: 5-132384165-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132384166del , CM000667.2:g.132384166del	GRCh38
NC_000005.9:g.131719858del , CM000667.1:g.131719858del	GRCh37
NC_000005.8:g.131747757del	NCBI36
NG_008982.1:g.19458del
NG_008982.2:g.19463del

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.517del	ENSP00000388838.2:p.Leu173CysfsTer3
ENST00000435065.7:c.589del	ENSP00000402760.2:p.Leu197CysfsTer3
ENST00000448810.6:c.517del	ENSP00000401860.2:p.Leu173CysfsTer3
ENST00000686757.1:c.517del	ENSP00000510721.1:p.Leu173CysfsTer3
ENST00000687740.1:n.651del
ENST00000688151.1:n.1696del
ENST00000689271.1:c.517del	ENSP00000510797.1:p.Leu173CysfsTer3
ENST00000690900.1:c.517del	ENSP00000510703.1:p.Leu173CysfsTer3
ENST00000692355.1:c.69del
ENST00000692413.1:c.517del	ENSP00000509374.1:p.Leu173CysfsTer3
ENST00000692825.1:c.585del	ENSP00000509447.1:n.585del
ENST00000693308.1:c.517del	ENSP00000509770.1:p.Leu173CysfsTer3
ENST00000693763.1:n.651del
ENST00000245407.8:c.517del MANE Select	ENSP00000245407.3:p.Leu173CysfsTer3
ENST00000245407.7:c.517del	ENSP00000245407.3:p.Leu173CysfsTer3
ENST00000415928.5:c.286del	ENSP00000388838.1:p.Leu96CysfsTer3
ENST00000435065.6:c.589del	ENSP00000402760.2:p.Leu197CysfsTer3
ENST00000437841.6:c.394-1162del	ENSP00000400553.1:n.394-1162del
ENST00000461013.5:n.7939del
NM_001308122.1:c.589del	NP_001295051.1:p.Leu197CysfsTer3
NM_003060.3:c.517del	NP_003051.1:p.Leu173CysfsTer3
XR_427718.1:n.858del
XR_948290.1:n.858del
XR_948291.1:n.858del
XM_011543590.2:c.-115del	XP_011541892.1:n.-115del
XM_017009778.2:c.-12del	XP_016865267.1:n.-12del
XR_001742215.1:n.858del
XR_001742216.1:n.858del
XR_427718.2:n.858del
XR_948290.2:n.858del
XR_948291.2:n.858del
NM_003060.4:c.517del MANE Select	NP_003051.1:p.Leu173CysfsTer3
NM_001308122.2:c.589del	NP_001295051.1:p.Leu197CysfsTer3