Canonical Allele Identifier: CA1676923653

Gene: SLC22A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160139878_160139882delinsAAGTT , CM000668.2:g.160139878_160139882delinsAAGTT	GRCh38
NC_000006.11:g.160560910_160560914delinsAAGTT , CM000668.1:g.160560910_160560914delinsAAGTT	GRCh37
NC_000006.10:g.160480900_160480904delinsAAGTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1276+11_1276+15delinsAAGTT MANE Select	ENSP00000355930.4:n.1276+11_1276+15delinsAAGTT
ENST00000324965.8:c.1276+11_1276+15delinsAAGTT	ENSP00000318103.4:n.1276+11_1276+15delinsAAGTT
ENST00000366963.8:c.1276+11_1276+15delinsAAGTT	ENSP00000355930.4:n.1276+11_1276+15delinsAAGTT
ENST00000457470.6:c.1276+11_1276+15delinsAAGTT	ENSP00000409557.2:n.1276+11_1276+15delinsAAGTT
ENST00000460902.2:c.1061+3228_1061+3232delinsAAGTT	ENSP00000439274.1:n.1061+3228_1061+3232delinsAAGTT
ENST00000539263.5:c.*749+11_*749+15delinsAAGTT	ENSP00000443245.1:n.*749+11_*749+15delinsAAGTT
NM_003057.2:c.1276+11_1276+15delinsAAGTT	NP_003048.1:n.1276+11_1276+15delinsAAGTT
NM_153187.1:c.1276+11_1276+15delinsAAGTT	NP_694857.1:n.1276+11_1276+15delinsAAGTT
XM_005267102.3:c.1276+11_1276+15delinsAAGTT	XP_005267159.1:n.1276+11_1276+15delinsAAGTT
XM_005267103.1:c.1276+11_1276+15delinsAAGTT	XP_005267160.1:n.1276+11_1276+15delinsAAGTT
XM_005267104.3:c.700+11_700+15delinsAAGTT	XP_005267161.1:n.700+11_700+15delinsAAGTT
XM_005267105.3:c.700+11_700+15delinsAAGTT	XP_005267162.1:n.700+11_700+15delinsAAGTT
XM_006715552.1:c.1276+11_1276+15delinsAAGTT	XP_006715615.1:n.1276+11_1276+15delinsAAGTT
XM_011536074.1:c.700+11_700+15delinsAAGTT	XP_011534376.1:n.700+11_700+15delinsAAGTT
XM_005267102.5:c.1276+11_1276+15delinsAAGTT	XP_005267159.1:n.1276+11_1276+15delinsAAGTT
XM_005267103.2:c.1276+11_1276+15delinsAAGTT	XP_005267160.1:n.1276+11_1276+15delinsAAGTT
XM_005267104.5:c.700+11_700+15delinsAAGTT	XP_005267161.1:n.700+11_700+15delinsAAGTT
XM_005267105.5:c.700+11_700+15delinsAAGTT	XP_005267162.1:n.700+11_700+15delinsAAGTT
XM_006715552.2:c.1276+11_1276+15delinsAAGTT	XP_006715615.1:n.1276+11_1276+15delinsAAGTT
XM_011536074.3:c.700+11_700+15delinsAAGTT	XP_011534376.1:n.700+11_700+15delinsAAGTT
NM_003057.3:c.1276+11_1276+15delinsAAGTT MANE Select	NP_003048.1:n.1276+11_1276+15delinsAAGTT
NM_153187.2:c.1276+11_1276+15delinsAAGTT	NP_694857.1:n.1276+11_1276+15delinsAAGTT