Canonical Allele Identifier: CA571906061

Gene: SLC22A1

Linked Data

• dbSNP Id: rs1317621385
• gnomAD v2: 6-160557639-A-ACGC
• gnomAD v4: 6-160136607-A-ACGC
• MyVariant Identifiers: chr6:g.160557639_160557640insCGC (hg19) ; chr6:g.160136607_160136608insCGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160136611_160136613dup , CM000668.2:g.160136611_160136613dup	GRCh38
NC_000006.11:g.160557643_160557645dup , CM000668.1:g.160557643_160557645dup	GRCh37
NC_000006.10:g.160477633_160477635dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1022_1024dup MANE Select	ENSP00000355930.4:p.Pro341_Arg342insPro
ENST00000324965.8:c.1022_1024dup	ENSP00000318103.4:p.Pro341_Arg342insPro
ENST00000366963.8:c.1022_1024dup	ENSP00000355930.4:p.Pro341_Arg342insPro
ENST00000457470.6:c.1022_1024dup	ENSP00000409557.2:p.Pro341_Arg342insPro
ENST00000460902.2:c.1022_1024dup	ENSP00000439274.1:p.Pro341_Arg342insPro
ENST00000539263.5:c.*495_*497dup	ENSP00000443245.1:n.*495_*497dup
NM_003057.2:c.1022_1024dup	NP_003048.1:p.Pro341_Arg342insPro
NM_153187.1:c.1022_1024dup	NP_694857.1:p.Pro341_Arg342insPro
XM_005267102.3:c.1022_1024dup	XP_005267159.1:p.Pro341_Arg342insPro
XM_005267103.1:c.1022_1024dup	XP_005267160.1:p.Pro341_Arg342insPro
XM_005267104.3:c.446_448dup	XP_005267161.1:p.Pro149_Arg150insPro
XM_005267105.3:c.446_448dup	XP_005267162.1:p.Pro149_Arg150insPro
XM_006715552.1:c.1022_1024dup	XP_006715615.1:p.Pro341_Arg342insPro
XM_011536074.1:c.446_448dup	XP_011534376.1:p.Pro149_Arg150insPro
XM_005267102.5:c.1022_1024dup	XP_005267159.1:p.Pro341_Arg342insPro
XM_005267103.2:c.1022_1024dup	XP_005267160.1:p.Pro341_Arg342insPro
XM_005267104.5:c.446_448dup	XP_005267161.1:p.Pro149_Arg150insPro
XM_005267105.5:c.446_448dup	XP_005267162.1:p.Pro149_Arg150insPro
XM_006715552.2:c.1022_1024dup	XP_006715615.1:p.Pro341_Arg342insPro
XM_011536074.3:c.446_448dup	XP_011534376.1:p.Pro149_Arg150insPro
NM_003057.3:c.1022_1024dup MANE Select	NP_003048.1:p.Pro341_Arg342insPro
NM_153187.2:c.1022_1024dup	NP_694857.1:p.Pro341_Arg342insPro