Canonical Allele Identifier: CA358681

Gene: SLC4A11

Linked Data

• ClinVar Variation Id: 1312
• ClinVar RCV Id: RCV000001375 ; RCV001381401
• dbSNP Id: rs869320721
• gnomAD v3: 20-3234173-TGGCGAAGC-T
• gnomAD v4: 20-3234173-TGGCGAAGC-T
• MyVariant Identifiers: chr20:g.3214820_3214827del (hg19) ; chr20:g.3234174_3234181del (hg38)
• PubMed: PMID:17220209

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3234182_3234189del , CM000682.2:g.3234182_3234189del	GRCh38
NC_000020.10:g.3214828_3214835del , CM000682.1:g.3214828_3214835del	GRCh37
NC_000020.9:g.3162828_3162835del	NCBI36
NG_017072.1:g.10061_10068del

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.425_432del MANE Select	ENSP00000493503.1:p.Arg142GlnfsTer4
ENST00000644011.1:c.356_363del	ENSP00000496214.1:p.Arg119GlnfsTer4
ENST00000644692.1:c.368_375del	ENSP00000493824.1:p.Arg123GlnfsTer4
ENST00000647296.1:c.425_432del	ENSP00000495050.1:p.Arg142GlnfsTer4
ENST00000380056.7:c.473_480del	ENSP00000369396.3:p.Arg158GlnfsTer4
ENST00000380059.7:c.554_561del	ENSP00000369399.3:p.Arg185GlnfsTer4
ENST00000474451.5:c.368_375del	ENSP00000476859.1:p.Arg123GlnfsTer4
ENST00000539553.6:c.425_432del	ENSP00000441370.1:p.Arg142GlnfsTer4
NM_001174089.1:c.425_432del	NP_001167560.1:p.Arg142GlnfsTer4
NM_001174090.1:c.554_561del	NP_001167561.1:p.Arg185GlnfsTer4
NM_032034.3:c.473_480del	NP_114423.1:p.Arg158GlnfsTer4
XM_005260856.3:c.908_915del	XP_005260913.1:p.Arg303GlnfsTer4
XM_005260857.1:c.368_375del	XP_005260914.1:p.Arg123GlnfsTer4
XM_011529383.1:c.392_399del	XP_011527685.1:p.Arg131GlnfsTer4
XM_011529384.1:c.368_375del	XP_011527686.1:p.Arg123GlnfsTer4
XM_011529385.1:c.368_375del	XP_011527687.1:p.Arg123GlnfsTer4
XM_011529386.1:c.908_915del	XP_011527688.1:p.Arg303GlnfsTer4
XR_937167.1:n.593_600del
NM_001363745.1:c.425_432del	NP_001350674.1:p.Arg142GlnfsTer4
NR_135000.1:n.593_600del
XM_005260856.5:c.908_915del	XP_005260913.1:p.Arg303GlnfsTer4
XM_011529383.3:c.392_399del	XP_011527685.1:p.Arg131GlnfsTer4
XM_017028093.1:c.908_915del	XP_016883582.1:p.Arg303GlnfsTer4
XM_017028094.1:c.368_375del	XP_016883583.1:p.Arg123GlnfsTer4
XM_017028096.1:c.368_375del	XP_016883585.1:p.Arg123GlnfsTer4
XM_017028097.1:c.908_915del	XP_016883586.1:p.Arg303GlnfsTer4
XR_001754419.1:n.1018_1025del
XR_001754420.2:n.1018_1025del
NM_001174089.2:c.425_432del MANE Select	NP_001167560.1:p.Arg142GlnfsTer4
NM_001363745.2:c.425_432del	NP_001350674.1:p.Arg142GlnfsTer4
NM_001174090.2:c.554_561del	NP_001167561.1:p.Arg185GlnfsTer4
NM_032034.4:c.473_480del	NP_114423.1:p.Arg158GlnfsTer4
NM_001400277.1:c.368_375del	NP_001387206.1:p.Arg123GlnfsTer4
NM_001400278.1:c.368_375del	NP_001387207.1:p.Arg123GlnfsTer4
NM_001400279.1:c.368_375del	NP_001387208.1:p.Arg123GlnfsTer4
NM_001400280.1:c.554_561del	NP_001387209.1:p.Arg185GlnfsTer4
NR_174470.1:n.983_990del
NR_174471.1:n.983_990del