Canonical Allele Identifier: CA2773789409

Gene: SLC22A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160154948_160154953del , CM000668.2:g.160154948_160154953del	GRCh38
NC_000006.11:g.160575980_160575985del , CM000668.1:g.160575980_160575985del	GRCh37
NC_000006.10:g.160495970_160495975del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1498+38_1498+43del MANE Select	ENSP00000355930.4:n.1498+38_1498+43del
ENST00000324965.8:c.1386-1027_1386-1022del	ENSP00000318103.4:n.1386-1027_1386-1022del
ENST00000366963.8:c.1498+38_1498+43del	ENSP00000355930.4:n.1498+38_1498+43del
ENST00000457470.6:c.1386-3568_1386-3563del	ENSP00000409557.2:n.1386-3568_1386-3563del
ENST00000460902.2:c.1283+38_1283+43del	ENSP00000439274.1:n.1283+38_1283+43del
ENST00000539263.5:c.*971+38_*971+43del	ENSP00000443245.1:n.*971+38_*971+43del
NM_003057.2:c.1498+38_1498+43del	NP_003048.1:n.1498+38_1498+43del
NM_153187.1:c.1386-1027_1386-1022del	NP_694857.1:n.1386-1027_1386-1022del
XM_005267102.3:c.1498+38_1498+43del	XP_005267159.1:n.1498+38_1498+43del
XM_005267103.1:c.1498+38_1498+43del	XP_005267160.1:n.1498+38_1498+43del
XM_005267104.3:c.922+38_922+43del	XP_005267161.1:n.922+38_922+43del
XM_005267105.3:c.922+38_922+43del	XP_005267162.1:n.922+38_922+43del
XM_006715552.1:c.1386-3568_1386-3563del	XP_006715615.1:n.1386-3568_1386-3563del
XM_011536074.1:c.922+38_922+43del	XP_011534376.1:n.922+38_922+43del
XM_005267102.5:c.1498+38_1498+43del	XP_005267159.1:n.1498+38_1498+43del
XM_005267103.2:c.1498+38_1498+43del	XP_005267160.1:n.1498+38_1498+43del
XM_005267104.5:c.922+38_922+43del	XP_005267161.1:n.922+38_922+43del
XM_005267105.5:c.922+38_922+43del	XP_005267162.1:n.922+38_922+43del
XM_006715552.2:c.1386-3568_1386-3563del	XP_006715615.1:n.1386-3568_1386-3563del
XM_011536074.3:c.922+38_922+43del	XP_011534376.1:n.922+38_922+43del
NM_003057.3:c.1498+38_1498+43del MANE Select	NP_003048.1:n.1498+38_1498+43del
NM_153187.2:c.1386-1027_1386-1022del	NP_694857.1:n.1386-1027_1386-1022del