Canonical Allele Identifier: CA2681066129

Gene: SLC22A1

Linked Data

• gnomAD v4: 6-160154816-G-GTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160154818_160154820dup , CM000668.2:g.160154818_160154820dup	GRCh38
NC_000006.11:g.160575850_160575852dup , CM000668.1:g.160575850_160575852dup	GRCh37
NC_000006.10:g.160495840_160495842dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366963.9:c.1406_1408dup MANE Select	ENSP00000355930.4:p.Cys469_Ser470insCys
ENST00000324965.8:c.1386-1157_1386-1155dup	ENSP00000318103.4:n.1386-1157_1386-1155dup
ENST00000366963.8:c.1406_1408dup	ENSP00000355930.4:p.Cys469_Ser470insCys
ENST00000457470.6:c.1386-3698_1386-3696dup	ENSP00000409557.2:n.1386-3698_1386-3696dup
ENST00000460902.2:c.1191_1193dup	ENSP00000439274.1:n.1191_1193dup
ENST00000539263.5:c.*879_*881dup	ENSP00000443245.1:n.*879_*881dup
NM_003057.2:c.1406_1408dup	NP_003048.1:p.Cys469_Ser470insCys
NM_153187.1:c.1386-1157_1386-1155dup	NP_694857.1:n.1386-1157_1386-1155dup
XM_005267102.3:c.1406_1408dup	XP_005267159.1:p.Cys469_Ser470insCys
XM_005267103.1:c.1406_1408dup	XP_005267160.1:p.Cys469_Ser470insCys
XM_005267104.3:c.830_832dup	XP_005267161.1:p.Cys277_Ser278insCys
XM_005267105.3:c.830_832dup	XP_005267162.1:p.Cys277_Ser278insCys
XM_006715552.1:c.1386-3698_1386-3696dup	XP_006715615.1:n.1386-3698_1386-3696dup
XM_011536074.1:c.830_832dup	XP_011534376.1:p.Cys277_Ser278insCys
XM_005267102.5:c.1406_1408dup	XP_005267159.1:p.Cys469_Ser470insCys
XM_005267103.2:c.1406_1408dup	XP_005267160.1:p.Cys469_Ser470insCys
XM_005267104.5:c.830_832dup	XP_005267161.1:p.Cys277_Ser278insCys
XM_005267105.5:c.830_832dup	XP_005267162.1:p.Cys277_Ser278insCys
XM_006715552.2:c.1386-3698_1386-3696dup	XP_006715615.1:n.1386-3698_1386-3696dup
XM_011536074.3:c.830_832dup	XP_011534376.1:p.Cys277_Ser278insCys
NM_003057.3:c.1406_1408dup MANE Select	NP_003048.1:p.Cys469_Ser470insCys
NM_153187.2:c.1386-1157_1386-1155dup	NP_694857.1:n.1386-1157_1386-1155dup