Canonical Allele Identifier: CA1676923615

Gene: SLC22A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160139843_160139846delinsCTCG , CM000668.2:g.160139843_160139846delinsCTCG	GRCh38
NC_000006.11:g.160560875_160560878delinsCTCG , CM000668.1:g.160560875_160560878delinsCTCG	GRCh37
NC_000006.10:g.160480865_160480868delinsCTCG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1252_1255delinsCTCG MANE Select	ENSP00000355930.4:p.Leu418=
ENST00000324965.8:c.1252_1255delinsCTCG	ENSP00000318103.4:p.Leu418=
ENST00000366963.8:c.1252_1255delinsCTCG	ENSP00000355930.4:p.Leu418=
ENST00000457470.6:c.1252_1255delinsCTCG	ENSP00000409557.2:p.Leu418=
ENST00000460902.2:c.1061+3193_1061+3196delinsCTCG	ENSP00000439274.1:n.1061+3193_1061+3196delinsCTCG
ENST00000539263.5:c.*725_*728delinsCTCG	ENSP00000443245.1:n.*725_*728delinsCTCG
NM_003057.2:c.1252_1255delinsCTCG	NP_003048.1:p.Leu418=
NM_153187.1:c.1252_1255delinsCTCG	NP_694857.1:p.Leu418=
XM_005267102.3:c.1252_1255delinsCTCG	XP_005267159.1:p.Leu418=
XM_005267103.1:c.1252_1255delinsCTCG	XP_005267160.1:p.Leu418=
XM_005267104.3:c.676_679delinsCTCG	XP_005267161.1:p.Leu226=
XM_005267105.3:c.676_679delinsCTCG	XP_005267162.1:p.Leu226=
XM_006715552.1:c.1252_1255delinsCTCG	XP_006715615.1:p.Leu418=
XM_011536074.1:c.676_679delinsCTCG	XP_011534376.1:p.Leu226=
XM_005267102.5:c.1252_1255delinsCTCG	XP_005267159.1:p.Leu418=
XM_005267103.2:c.1252_1255delinsCTCG	XP_005267160.1:p.Leu418=
XM_005267104.5:c.676_679delinsCTCG	XP_005267161.1:p.Leu226=
XM_005267105.5:c.676_679delinsCTCG	XP_005267162.1:p.Leu226=
XM_006715552.2:c.1252_1255delinsCTCG	XP_006715615.1:p.Leu418=
XM_011536074.3:c.676_679delinsCTCG	XP_011534376.1:p.Leu226=
NM_003057.3:c.1252_1255delinsCTCG MANE Select	NP_003048.1:p.Leu418=
NM_153187.2:c.1252_1255delinsCTCG	NP_694857.1:p.Leu418=