Canonical Allele Identifier: CA4084026

Gene: SLC22A1

Linked Data

• dbSNP Id: rs755828176
• ExAC: 6:160560882 TGA / T
• gnomAD v2: 6-160560882-TGA-T
• gnomAD v4: 6-160139850-TGA-T
• MyVariant Identifiers: chr6:g.160560883_160560884del (hg19) ; chr6:g.160139851_160139852del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160139851_160139852del , CM000668.2:g.160139851_160139852del	GRCh38
NC_000006.11:g.160560883_160560884del , CM000668.1:g.160560883_160560884del	GRCh37
NC_000006.10:g.160480873_160480874del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1260_1261del MANE Select	ENSP00000355930.4:p.Met420IlefsTer6
ENST00000324965.8:c.1260_1261del	ENSP00000318103.4:p.Met420IlefsTer6
ENST00000366963.8:c.1260_1261del	ENSP00000355930.4:p.Met420IlefsTer6
ENST00000457470.6:c.1260_1261del	ENSP00000409557.2:p.Met420IlefsTer6
ENST00000460902.2:c.1061+3201_1061+3202del	ENSP00000439274.1:n.1061+3201_1061+3202del
ENST00000539263.5:c.*733_*734del	ENSP00000443245.1:n.*733_*734del
NM_003057.2:c.1260_1261del	NP_003048.1:p.Met420IlefsTer6
NM_153187.1:c.1260_1261del	NP_694857.1:p.Met420IlefsTer6
XM_005267102.3:c.1260_1261del	XP_005267159.1:p.Met420IlefsTer6
XM_005267103.1:c.1260_1261del	XP_005267160.1:p.Met420IlefsTer6
XM_005267104.3:c.684_685del	XP_005267161.1:p.Met228IlefsTer6
XM_005267105.3:c.684_685del	XP_005267162.1:p.Met228IlefsTer6
XM_006715552.1:c.1260_1261del	XP_006715615.1:p.Met420IlefsTer6
XM_011536074.1:c.684_685del	XP_011534376.1:p.Met228IlefsTer6
XM_005267102.5:c.1260_1261del	XP_005267159.1:p.Met420IlefsTer6
XM_005267103.2:c.1260_1261del	XP_005267160.1:p.Met420IlefsTer6
XM_005267104.5:c.684_685del	XP_005267161.1:p.Met228IlefsTer6
XM_005267105.5:c.684_685del	XP_005267162.1:p.Met228IlefsTer6
XM_006715552.2:c.1260_1261del	XP_006715615.1:p.Met420IlefsTer6
XM_011536074.3:c.684_685del	XP_011534376.1:p.Met228IlefsTer6
NM_003057.3:c.1260_1261del MANE Select	NP_003048.1:p.Met420IlefsTer6
NM_153187.2:c.1260_1261del	NP_694857.1:p.Met420IlefsTer6