Canonical Allele Identifier: CA1676923648

Gene: SLC22A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160139876_160139877delinsGT , CM000668.2:g.160139876_160139877delinsGT	GRCh38
NC_000006.11:g.160560908_160560909delinsGT , CM000668.1:g.160560908_160560909delinsGT	GRCh37
NC_000006.10:g.160480898_160480899delinsGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1276+9_1276+10delinsGT MANE Select	ENSP00000355930.4:n.1276+9_1276+10delinsGT
ENST00000324965.8:c.1276+9_1276+10delinsGT	ENSP00000318103.4:n.1276+9_1276+10delinsGT
ENST00000366963.8:c.1276+9_1276+10delinsGT	ENSP00000355930.4:n.1276+9_1276+10delinsGT
ENST00000457470.6:c.1276+9_1276+10delinsGT	ENSP00000409557.2:n.1276+9_1276+10delinsGT
ENST00000460902.2:c.1061+3226_1061+3227delinsGT	ENSP00000439274.1:n.1061+3226_1061+3227delinsGT
ENST00000539263.5:c.*749+9_*749+10delinsGT	ENSP00000443245.1:n.*749+9_*749+10delinsGT
NM_003057.2:c.1276+9_1276+10delinsGT	NP_003048.1:n.1276+9_1276+10delinsGT
NM_153187.1:c.1276+9_1276+10delinsGT	NP_694857.1:n.1276+9_1276+10delinsGT
XM_005267102.3:c.1276+9_1276+10delinsGT	XP_005267159.1:n.1276+9_1276+10delinsGT
XM_005267103.1:c.1276+9_1276+10delinsGT	XP_005267160.1:n.1276+9_1276+10delinsGT
XM_005267104.3:c.700+9_700+10delinsGT	XP_005267161.1:n.700+9_700+10delinsGT
XM_005267105.3:c.700+9_700+10delinsGT	XP_005267162.1:n.700+9_700+10delinsGT
XM_006715552.1:c.1276+9_1276+10delinsGT	XP_006715615.1:n.1276+9_1276+10delinsGT
XM_011536074.1:c.700+9_700+10delinsGT	XP_011534376.1:n.700+9_700+10delinsGT
XM_005267102.5:c.1276+9_1276+10delinsGT	XP_005267159.1:n.1276+9_1276+10delinsGT
XM_005267103.2:c.1276+9_1276+10delinsGT	XP_005267160.1:n.1276+9_1276+10delinsGT
XM_005267104.5:c.700+9_700+10delinsGT	XP_005267161.1:n.700+9_700+10delinsGT
XM_005267105.5:c.700+9_700+10delinsGT	XP_005267162.1:n.700+9_700+10delinsGT
XM_006715552.2:c.1276+9_1276+10delinsGT	XP_006715615.1:n.1276+9_1276+10delinsGT
XM_011536074.3:c.700+9_700+10delinsGT	XP_011534376.1:n.700+9_700+10delinsGT
NM_003057.3:c.1276+9_1276+10delinsGT MANE Select	NP_003048.1:n.1276+9_1276+10delinsGT
NM_153187.2:c.1276+9_1276+10delinsGT	NP_694857.1:n.1276+9_1276+10delinsGT