Canonical Allele Identifier: CA2651691937

Gene: SLC4A11

Linked Data

• gnomAD v4: 20-3234198-C-CAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3234200_3234201insGGAG , CM000682.2:g.3234200_3234201insGGAG	GRCh38
NC_000020.10:g.3214846_3214847insGGAG , CM000682.1:g.3214846_3214847insGGAG	GRCh37
NC_000020.9:g.3162846_3162847insGGAG	NCBI36
NG_017072.1:g.10043_10044insCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642402.1:c.407_408insCCCT MANE Select	ENSP00000493503.1:p.Arg137ProfsTer13
ENST00000644011.1:c.338_339insCCCT	ENSP00000496214.1:p.Arg114ProfsTer13
ENST00000644692.1:c.350_351insCCCT	ENSP00000493824.1:p.Arg118ProfsTer13
ENST00000647296.1:c.407_408insCCCT	ENSP00000495050.1:p.Arg137ProfsTer13
ENST00000380056.7:c.455_456insCCCT	ENSP00000369396.3:p.Arg153ProfsTer13
ENST00000380059.7:c.536_537insCCCT	ENSP00000369399.3:p.Arg180ProfsTer13
ENST00000474451.5:c.350_351insCCCT	ENSP00000476859.1:p.Arg118ProfsTer13
ENST00000539553.6:c.407_408insCCCT	ENSP00000441370.1:p.Arg137ProfsTer13
NM_001174089.1:c.407_408insCCCT	NP_001167560.1:p.Arg137ProfsTer13
NM_001174090.1:c.536_537insCCCT	NP_001167561.1:p.Arg180ProfsTer13
NM_032034.3:c.455_456insCCCT	NP_114423.1:p.Arg153ProfsTer13
XM_005260856.3:c.890_891insCCCT	XP_005260913.1:p.Arg298ProfsTer13
XM_005260857.1:c.350_351insCCCT	XP_005260914.1:p.Arg118ProfsTer13
XM_011529383.1:c.374_375insCCCT	XP_011527685.1:p.Arg126ProfsTer13
XM_011529384.1:c.350_351insCCCT	XP_011527686.1:p.Arg118ProfsTer13
XM_011529385.1:c.350_351insCCCT	XP_011527687.1:p.Arg118ProfsTer13
XM_011529386.1:c.890_891insCCCT	XP_011527688.1:p.Arg298ProfsTer13
XR_937167.1:n.575_576insCCCT
NM_001363745.1:c.407_408insCCCT	NP_001350674.1:p.Arg137ProfsTer13
NR_135000.1:n.575_576insCCCT
XM_005260856.5:c.890_891insCCCT	XP_005260913.1:p.Arg298ProfsTer13
XM_011529383.3:c.374_375insCCCT	XP_011527685.1:p.Arg126ProfsTer13
XM_017028093.1:c.890_891insCCCT	XP_016883582.1:p.Arg298ProfsTer13
XM_017028094.1:c.350_351insCCCT	XP_016883583.1:p.Arg118ProfsTer13
XM_017028096.1:c.350_351insCCCT	XP_016883585.1:p.Arg118ProfsTer13
XM_017028097.1:c.890_891insCCCT	XP_016883586.1:p.Arg298ProfsTer13
XR_001754419.1:n.1000_1001insCCCT
XR_001754420.2:n.1000_1001insCCCT
NM_001174089.2:c.407_408insCCCT MANE Select	NP_001167560.1:p.Arg137ProfsTer13
NM_001363745.2:c.407_408insCCCT	NP_001350674.1:p.Arg137ProfsTer13
NM_001174090.2:c.536_537insCCCT	NP_001167561.1:p.Arg180ProfsTer13
NM_032034.4:c.455_456insCCCT	NP_114423.1:p.Arg153ProfsTer13
NM_001400277.1:c.350_351insCCCT	NP_001387206.1:p.Arg118ProfsTer13
NM_001400278.1:c.350_351insCCCT	NP_001387207.1:p.Arg118ProfsTer13
NM_001400279.1:c.350_351insCCCT	NP_001387208.1:p.Arg118ProfsTer13
NM_001400280.1:c.536_537insCCCT	NP_001387209.1:p.Arg180ProfsTer13
NR_174470.1:n.965_966insCCCT
NR_174471.1:n.965_966insCCCT