Canonical Allele Identifier: CA2713608025

Gene: SLC22A1

Linked Data

• dbSNP Id: rs2114811520

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160154836_160154837del , CM000668.2:g.160154836_160154837del	GRCh38
NC_000006.11:g.160575868_160575869del , CM000668.1:g.160575868_160575869del	GRCh37
NC_000006.10:g.160495858_160495859del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1424_1425del MANE Select	ENSP00000355930.4:p.Ile475ArgfsTer?
ENST00000324965.8:c.1386-1139_1386-1138del	ENSP00000318103.4:n.1386-1139_1386-1138del
ENST00000366963.8:c.1424_1425del	ENSP00000355930.4:p.Ile475ArgfsTer?
ENST00000457470.6:c.1386-3680_1386-3679del	ENSP00000409557.2:n.1386-3680_1386-3679del
ENST00000460902.2:c.1209_1210del	ENSP00000439274.1:n.1209_1210del
ENST00000539263.5:c.*897_*898del	ENSP00000443245.1:n.*897_*898del
NM_003057.2:c.1424_1425del	NP_003048.1:p.Ile475ArgfsTer?
NM_153187.1:c.1386-1139_1386-1138del	NP_694857.1:n.1386-1139_1386-1138del
XM_005267102.3:c.1424_1425del	XP_005267159.1:p.Ile475ArgfsTer25
XM_005267103.1:c.1424_1425del	XP_005267160.1:p.Ile475ArgfsTer?
XM_005267104.3:c.848_849del	XP_005267161.1:p.Ile283ArgfsTer25
XM_005267105.3:c.848_849del	XP_005267162.1:p.Ile283ArgfsTer25
XM_006715552.1:c.1386-3680_1386-3679del	XP_006715615.1:n.1386-3680_1386-3679del
XM_011536074.1:c.848_849del	XP_011534376.1:p.Ile283ArgfsTer25
XM_005267102.5:c.1424_1425del	XP_005267159.1:p.Ile475ArgfsTer25
XM_005267103.2:c.1424_1425del	XP_005267160.1:p.Ile475ArgfsTer?
XM_005267104.5:c.848_849del	XP_005267161.1:p.Ile283ArgfsTer25
XM_005267105.5:c.848_849del	XP_005267162.1:p.Ile283ArgfsTer25
XM_006715552.2:c.1386-3680_1386-3679del	XP_006715615.1:n.1386-3680_1386-3679del
XM_011536074.3:c.848_849del	XP_011534376.1:p.Ile283ArgfsTer25
NM_003057.3:c.1424_1425del MANE Select	NP_003048.1:p.Ile475ArgfsTer?
NM_153187.2:c.1386-1139_1386-1138del	NP_694857.1:n.1386-1139_1386-1138del