Canonical Allele Identifier: CA251305

Gene: SLC4A11

Linked Data

• ClinVar Variation Id: 208613
• ClinVar RCV Id: RCV000190625 ; RCV002460964
• dbSNP Id: rs797045107
• MyVariant Identifiers: chr20:g.3214819_3214827delinsG (hg19) ; chr20:g.3234173_3234181delinsG (hg38)
• PubMed: PMID:18474783

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3234173_3234181delinsG , CM000682.2:g.3234173_3234181delinsG	GRCh38
NC_000020.10:g.3214819_3214827delinsG , CM000682.1:g.3214819_3214827delinsG	GRCh37
NC_000020.9:g.3162819_3162827delinsG	NCBI36
NG_017072.1:g.10061_10069delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642402.1:c.425_433delinsC MANE Select	ENSP00000493503.1:p.Arg142ProfsTer4
ENST00000644011.1:c.356_364delinsC	ENSP00000496214.1:p.Arg119ProfsTer4
ENST00000644692.1:c.368_376delinsC	ENSP00000493824.1:p.Arg123ProfsTer4
ENST00000647296.1:c.425_433delinsC	ENSP00000495050.1:p.Arg142ProfsTer4
ENST00000380056.7:c.473_481delinsC	ENSP00000369396.3:p.Arg158ProfsTer4
ENST00000380059.7:c.554_562delinsC	ENSP00000369399.3:p.Arg185ProfsTer4
ENST00000474451.5:c.368_376delinsC	ENSP00000476859.1:p.Arg123ProfsTer4
ENST00000539553.6:c.425_433delinsC	ENSP00000441370.1:p.Arg142ProfsTer4
NM_001174089.1:c.425_433delinsC	NP_001167560.1:p.Arg142ProfsTer4
NM_001174090.1:c.554_562delinsC	NP_001167561.1:p.Arg185ProfsTer4
NM_032034.3:c.473_481delinsC	NP_114423.1:p.Arg158ProfsTer4
XM_005260856.3:c.908_916delinsC	XP_005260913.1:p.Arg303ProfsTer4
XM_005260857.1:c.368_376delinsC	XP_005260914.1:p.Arg123ProfsTer4
XM_011529383.1:c.392_400delinsC	XP_011527685.1:p.Arg131ProfsTer4
XM_011529384.1:c.368_376delinsC	XP_011527686.1:p.Arg123ProfsTer4
XM_011529385.1:c.368_376delinsC	XP_011527687.1:p.Arg123ProfsTer4
XM_011529386.1:c.908_916delinsC	XP_011527688.1:p.Arg303ProfsTer4
XR_937167.1:n.593_601delinsC
NM_001363745.1:c.425_433delinsC	NP_001350674.1:p.Arg142ProfsTer4
NR_135000.1:n.593_601delinsC
XM_005260856.5:c.908_916delinsC	XP_005260913.1:p.Arg303ProfsTer4
XM_011529383.3:c.392_400delinsC	XP_011527685.1:p.Arg131ProfsTer4
XM_017028093.1:c.908_916delinsC	XP_016883582.1:p.Arg303ProfsTer4
XM_017028094.1:c.368_376delinsC	XP_016883583.1:p.Arg123ProfsTer4
XM_017028096.1:c.368_376delinsC	XP_016883585.1:p.Arg123ProfsTer4
XM_017028097.1:c.908_916delinsC	XP_016883586.1:p.Arg303ProfsTer4
XR_001754419.1:n.1018_1026delinsC
XR_001754420.2:n.1018_1026delinsC
NM_001174089.2:c.425_433delinsC MANE Select	NP_001167560.1:p.Arg142ProfsTer4
NM_001363745.2:c.425_433delinsC	NP_001350674.1:p.Arg142ProfsTer4
NM_001174090.2:c.554_562delinsC	NP_001167561.1:p.Arg185ProfsTer4
NM_032034.4:c.473_481delinsC	NP_114423.1:p.Arg158ProfsTer4
NM_001400277.1:c.368_376delinsC	NP_001387206.1:p.Arg123ProfsTer4
NM_001400278.1:c.368_376delinsC	NP_001387207.1:p.Arg123ProfsTer4
NM_001400279.1:c.368_376delinsC	NP_001387208.1:p.Arg123ProfsTer4
NM_001400280.1:c.554_562delinsC	NP_001387209.1:p.Arg185ProfsTer4
NR_174470.1:n.983_991delinsC
NR_174471.1:n.983_991delinsC