Canonical Allele Identifier: CA312974
Gene: SLC22A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6428
dbSNP Id: rs267607053

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132392489_132392490delinsAT , CM000667.2:g.132392489_132392490delinsAT GRCh38
NC_000005.9:g.131728181_131728182delinsAT , CM000667.1:g.131728181_131728182delinsAT GRCh37
NC_000005.8:g.131756080_131756081delinsAT NCBI36
NG_008982.1:g.27781_27782delinsAT
NG_008982.2:g.27786_27787delinsAT

Transcript Alleles

HGVS Amino-acid change
NM_001308122.1:c.1396_1397delinsAT VV NP_001295051.1:p.Ala466Ile
NM_003060.3:c.1324_1325delinsAT VV NP_003051.1:p.Ala442Ile
XM_011543590.1:c.706_707delinsAT XP_011541892.1:p.Ala236Ile
XR_948290.1:n.1450_1451delinsAT
XM_011543590.2:c.706_707delinsAT
XM_017009778.2:c.796_797delinsAT XP_016865267.1:p.Ala266Ile
XR_001742215.1:n.1579_1580delinsAT
XR_001742216.1:n.1598_1599delinsAT
XR_427718.2:n.1684_1685delinsAT
XR_948290.2:n.1450_1451delinsAT
XR_948291.2:n.1678_1679delinsAT
ENST00000245407.7:c.1324_1325delinsAT ENSP00000245407.3:p.Ala442Ile
ENST00000435065.6:n.1396_1397delinsAT ENSP00000402760.2:p.Ala466Ile
ENST00000447841.5:n.168_169delinsAT
ENST00000448810.5:n.586_587delinsAT
ENST00000461013.5:n.8746_8747delinsAT
ENST00000475308.1:n.2002_2003delinsAT
ENST00000479605.5:n.427_428delinsAT