Canonical Allele Identifier: CA571527577

Gene: SLC22A1

Linked Data

• dbSNP Id: rs1373567136
• gnomAD v2: 6-160560875-CTCG-C
• MyVariant Identifiers: chr6:g.160560876_160560878del (hg19) ; chr6:g.160139844_160139846del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160139846_160139848del , CM000668.2:g.160139846_160139848del	GRCh38
NC_000006.11:g.160560878_160560880del , CM000668.1:g.160560878_160560880del	GRCh37
NC_000006.10:g.160480868_160480870del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1255_1257del MANE Select	ENSP00000355930.4:p.Val419del
ENST00000324965.8:c.1255_1257del	ENSP00000318103.4:p.Val419del
ENST00000366963.8:c.1255_1257del	ENSP00000355930.4:p.Val419del
ENST00000457470.6:c.1255_1257del	ENSP00000409557.2:p.Val419del
ENST00000460902.2:c.1061+3196_1061+3198del	ENSP00000439274.1:n.1061+3196_1061+3198del
ENST00000539263.5:c.*728_*730del	ENSP00000443245.1:n.*728_*730del
NM_003057.2:c.1255_1257del	NP_003048.1:p.Val419del
NM_153187.1:c.1255_1257del	NP_694857.1:p.Val419del
XM_005267102.3:c.1255_1257del	XP_005267159.1:p.Val419del
XM_005267103.1:c.1255_1257del	XP_005267160.1:p.Val419del
XM_005267104.3:c.679_681del	XP_005267161.1:p.Val227del
XM_005267105.3:c.679_681del	XP_005267162.1:p.Val227del
XM_006715552.1:c.1255_1257del	XP_006715615.1:p.Val419del
XM_011536074.1:c.679_681del	XP_011534376.1:p.Val227del
XM_005267102.5:c.1255_1257del	XP_005267159.1:p.Val419del
XM_005267103.2:c.1255_1257del	XP_005267160.1:p.Val419del
XM_005267104.5:c.679_681del	XP_005267161.1:p.Val227del
XM_005267105.5:c.679_681del	XP_005267162.1:p.Val227del
XM_006715552.2:c.1255_1257del	XP_006715615.1:p.Val419del
XM_011536074.3:c.679_681del	XP_011534376.1:p.Val227del
NM_003057.3:c.1255_1257del MANE Select	NP_003048.1:p.Val419del
NM_153187.2:c.1255_1257del	NP_694857.1:p.Val419del