Canonical Allele Identifier: CA562770616

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1070906
• ClinVar RCV Id: RCV001383233
• dbSNP Id: rs386134209
• gnomAD v2: 5-131722730-T-TC
• gnomAD v3: 5-132387038-T-TC
• gnomAD v4: 5-132387038-T-TC
• MyVariant Identifiers: chr5:g.131722730_131722731insC (hg19) ; chr5:g.132387038_132387039insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387044dup , CM000667.2:g.132387044dup	GRCh38
NC_000005.9:g.131722736dup , CM000667.1:g.131722736dup	GRCh37
NC_000005.8:g.131750635dup	NCBI36
NG_008982.1:g.22336dup
NG_008982.2:g.22341dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.685dup	ENSP00000388838.2:p.Arg229ProfsTer10
ENST00000435065.7:c.916dup	ENSP00000402760.2:p.Arg306ProfsTer10
ENST00000448810.6:c.844dup	ENSP00000401860.2:p.Arg282ProfsTer10
ENST00000686757.1:c.*8dup	ENSP00000510721.1:n.*8dup
ENST00000687740.1:n.3529dup
ENST00000688151.1:n.2154dup
ENST00000689271.1:c.691dup	ENSP00000510797.1:p.Arg231ProfsTer10
ENST00000690900.1:c.*8dup	ENSP00000510703.1:n.*8dup
ENST00000692212.1:n.788dup
ENST00000692355.1:c.205-1877dup
ENST00000692413.1:c.844-18dup	ENSP00000509374.1:n.844-18dup
ENST00000692825.1:c.912dup	ENSP00000509447.1:n.912dup
ENST00000693308.1:c.892dup	ENSP00000509770.1:p.Arg298ProfsTer10
ENST00000693763.1:n.2004dup
ENST00000245407.8:c.844dup MANE Select	ENSP00000245407.3:p.Arg282ProfsTer10
ENST00000245407.7:c.844dup	ENSP00000245407.3:p.Arg282ProfsTer10
ENST00000415928.5:c.613dup	ENSP00000388838.1:p.Arg205ProfsTer10
ENST00000435065.6:c.916dup	ENSP00000402760.2:p.Arg306ProfsTer10
ENST00000437841.6:c.*159dup	ENSP00000400553.1:n.*159dup
ENST00000448810.5:c.192dup
ENST00000461013.5:n.8266dup
NM_001308122.1:c.916dup	NP_001295051.1:p.Arg306ProfsTer10
NM_003060.3:c.844dup	NP_003051.1:p.Arg282ProfsTer10
XM_011543590.1:c.226dup	XP_011541892.1:p.Arg76ProfsTer10
XR_427718.1:n.1204dup
XR_948290.1:n.1185dup
XR_948291.1:n.1198dup
XM_011543590.2:c.226dup	XP_011541892.1:p.Arg76ProfsTer10
XM_017009778.2:c.316dup	XP_016865267.1:p.Arg106ProfsTer10
XR_001742215.1:n.1185dup
XR_001742216.1:n.1204dup
XR_427718.2:n.1204dup
XR_948290.2:n.1185dup
XR_948291.2:n.1198dup
NM_003060.4:c.844dup MANE Select	NP_003051.1:p.Arg282ProfsTer10
NM_001308122.2:c.916dup	NP_001295051.1:p.Arg306ProfsTer10