Canonical Allele Identifier: CA1676923549

Gene: SLC22A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160139712_160139713delinsAC , CM000668.2:g.160139712_160139713delinsAC	GRCh38
NC_000006.11:g.160560744_160560745delinsAC , CM000668.1:g.160560744_160560745delinsAC	GRCh37
NC_000006.10:g.160480734_160480735delinsAC	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366963.9:c.1121_1122delinsAC MANE Select	ENSP00000355930.4:p.Asn374=
ENST00000324965.8:c.1121_1122delinsAC	ENSP00000318103.4:p.Asn374=
ENST00000366963.8:c.1121_1122delinsAC	ENSP00000355930.4:p.Asn374=
ENST00000457470.6:c.1121_1122delinsAC	ENSP00000409557.2:p.Asn374=
ENST00000460902.2:c.1061+3062_1061+3063delinsAC	ENSP00000439274.1:n.1061+3062_1061+3063de...
ENST00000539263.5:c.*594_*595delinsAC	ENSP00000443245.1:n.*594_*595delinsAC
NM_003057.2:c.1121_1122delinsAC	NP_003048.1:p.Asn374=
NM_153187.1:c.1121_1122delinsAC	NP_694857.1:p.Asn374=
XM_005267102.3:c.1121_1122delinsAC	XP_005267159.1:p.Asn374=
XM_005267103.1:c.1121_1122delinsAC	XP_005267160.1:p.Asn374=
XM_005267104.3:c.545_546delinsAC	XP_005267161.1:p.Asn182=
XM_005267105.3:c.545_546delinsAC	XP_005267162.1:p.Asn182=
XM_006715552.1:c.1121_1122delinsAC	XP_006715615.1:p.Asn374=
XM_011536074.1:c.545_546delinsAC	XP_011534376.1:p.Asn182=
XM_005267102.5:c.1121_1122delinsAC	XP_005267159.1:p.Asn374=
XM_005267103.2:c.1121_1122delinsAC	XP_005267160.1:p.Asn374=
XM_005267104.5:c.545_546delinsAC	XP_005267161.1:p.Asn182=
XM_005267105.5:c.545_546delinsAC	XP_005267162.1:p.Asn182=
XM_006715552.2:c.1121_1122delinsAC	XP_006715615.1:p.Asn374=
XM_011536074.3:c.545_546delinsAC	XP_011534376.1:p.Asn182=
NM_003057.3:c.1121_1122delinsAC MANE Select	NP_003048.1:p.Asn374=
NM_153187.2:c.1121_1122delinsAC	NP_694857.1:p.Asn374=