Canonical Allele Identifier: CA216370279

Gene: SLC22A18

Linked Data

• dbSNP Id: rs565231511
• gnomAD v2: 11-2936969-GC-G
• gnomAD v3: 11-2915739-GC-G
• gnomAD v4: 11-2915739-GC-G
• MyVariant Identifiers: chr11:g.2936970del (hg19) ; chr11:g.2915740del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2915741del , CM000673.2:g.2915741del	GRCh38
NC_000011.9:g.2936971del , CM000673.1:g.2936971del	GRCh37
NC_000011.8:g.2893547del	NCBI36
NG_011512.1:g.21021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649076.2:c.537-881del MANE Select	ENSP00000497561.1:n.537-881del
ENST00000312221.9:c.537-881del	ENSP00000311139.5:n.537-881del
ENST00000347936.6:c.537-881del	ENSP00000307859.2:n.537-881del
ENST00000380574.5:c.537-881del	ENSP00000369948.1:n.537-881del
ENST00000449793.6:c.243-881del	ENSP00000392072.2:n.243-881del
ENST00000492567.2:n.507-468del
NM_001315501.1:c.792-881del	NP_001302430.1:n.792-881del
NM_001315502.1:c.243-881del	NP_001302431.1:n.243-881del
NM_002555.5:c.537-881del	NP_002546.3:n.537-881del
NM_183233.2:c.537-881del	NP_899056.2:n.537-881del
XM_005252953.3:c.107+485del	XP_005253010.1:n.107+485del
XM_006718243.2:c.537-881del	XP_006718306.1:n.537-881del
XM_011520140.1:c.735-881del	XP_011518442.1:n.735-881del
XM_011520141.1:c.537-881del	XP_011518443.1:n.537-881del
XM_011520142.1:c.537-881del	XP_011518444.1:n.537-881del
XM_011520143.1:c.-459del	XP_011518445.1:n.-459del
XM_011520141.2:c.792-881del	XP_011518443.2:n.792-881del
XM_011520142.2:c.792-881del	XP_011518444.2:n.792-881del
NM_001315502.2:c.243-881del	NP_001302431.1:n.243-881del
NM_002555.6:c.537-881del MANE Select	NP_002546.3:n.537-881del
NM_183233.3:c.537-881del	NP_899056.2:n.537-881del
NM_001315501.2:c.792-881del	NP_001302430.1:n.792-881del