Canonical Allele Identifier: CA1583143633
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132384161_132384163delinsATG , CM000667.2:g.132384161_132384163delinsATG GRCh38
NC_000005.9:g.131719853_131719855delinsATG , CM000667.1:g.131719853_131719855delinsATG GRCh37
NC_000005.8:g.131747752_131747754delinsATG NCBI36
NG_008982.1:g.19453_19455delinsATG
NG_008982.2:g.19458_19460delinsATG

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.512_514delinsATG ENSP00000388838.2:p.Asn171=
ENST00000435065.7:c.584_586delinsATG ENSP00000402760.2:p.Asn195=
ENST00000448810.6:c.512_514delinsATG ENSP00000401860.2:p.Asn171=
ENST00000686757.1:c.512_514delinsATG ENSP00000510721.1:p.Asn171=
ENST00000687740.1:n.646_648delinsATG
ENST00000688151.1:n.1691_1693delinsATG
ENST00000689271.1:c.512_514delinsATG ENSP00000510797.1:p.Asn171=
ENST00000690900.1:c.512_514delinsATG ENSP00000510703.1:p.Asn171=
ENST00000692355.1:c.64_66delinsATG
ENST00000692413.1:c.512_514delinsATG ENSP00000509374.1:p.Asn171=
ENST00000692825.1:c.580_582delinsATG ENSP00000509447.1:n.580_582delinsATG
ENST00000693308.1:c.512_514delinsATG ENSP00000509770.1:p.Asn171=
ENST00000693763.1:n.646_648delinsATG
ENST00000245407.8:c.512_514delinsATG MANE Select ENSP00000245407.3:p.Asn171=
ENST00000245407.7:c.512_514delinsATG ENSP00000245407.3:p.Asn171=
ENST00000415928.5:c.281_283delinsATG ENSP00000388838.1:p.Asn94=
ENST00000435065.6:c.584_586delinsATG ENSP00000402760.2:p.Asn195=
ENST00000437841.6:c.394-1167_394-1165delinsATG ENSP00000400553.1:n.394-1167_394-1165deli...
ENST00000461013.5:n.7934_7936delinsATG
NM_001308122.1:c.584_586delinsATG NP_001295051.1:p.Asn195=
NM_003060.3:c.512_514delinsATG NP_003051.1:p.Asn171=
XR_427718.1:n.853_855delinsATG
XR_948290.1:n.853_855delinsATG
XR_948291.1:n.853_855delinsATG
XM_011543590.2:c.-120_-118delinsATG XP_011541892.1:n.-120_-118delinsATG
XM_017009778.2:c.-17_-15delinsATG XP_016865267.1:n.-17_-15delinsATG
XR_001742215.1:n.853_855delinsATG
XR_001742216.1:n.853_855delinsATG
XR_427718.2:n.853_855delinsATG
XR_948290.2:n.853_855delinsATG
XR_948291.2:n.853_855delinsATG
NM_003060.4:c.512_514delinsATG MANE Select NP_003051.1:p.Asn171=
NM_001308122.2:c.584_586delinsATG NP_001295051.1:p.Asn195=