Canonical Allele Identifier: CA2346474896
Gene: SLC4A11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3228232_3228233delinsTC , CM000682.2:g.3228232_3228233delinsTC GRCh38
NC_000020.10:g.3208878_3208879delinsTC , CM000682.1:g.3208878_3208879delinsTC GRCh37
NC_000020.9:g.3156878_3156879delinsTC NCBI36
NG_017072.1:g.16009_16010delinsGA
NG_012093.2:g.24366_24367delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000642402.1:c.2558+26_2558+27delinsGA MANE Select ENSP00000493503.1:n.2558+26_2558+27delinsGA
ENST00000644011.1:c.2489+26_2489+27delinsGA ENSP00000496214.1:n.2489+26_2489+27delinsGA
ENST00000644692.1:c.2357+26_2357+27delinsGA ENSP00000493824.1:n.2357+26_2357+27delinsGA
ENST00000647296.1:c.2444+26_2444+27delinsGA ENSP00000495050.1:n.2444+26_2444+27delinsGA
ENST00000380056.7:c.2606+26_2606+27delinsGA ENSP00000369396.3:n.2606+26_2606+27delinsGA
ENST00000380059.7:c.2687+26_2687+27delinsGA ENSP00000369399.3:n.2687+26_2687+27delinsGA
ENST00000474451.5:c.*706+26_*706+27delinsGA ENSP00000476859.1:n.*706+26_*706+27delinsGA
ENST00000539553.6:c.2558+26_2558+27delinsGA ENSP00000441370.1:n.2558+26_2558+27delinsGA
NM_001174089.1:c.2558+26_2558+27delinsGA NP_001167560.1:n.2558+26_2558+27delinsGA
NM_001174090.1:c.2687+26_2687+27delinsGA NP_001167561.1:n.2687+26_2687+27delinsGA
NM_032034.3:c.2606+26_2606+27delinsGA NP_114423.1:n.2606+26_2606+27delinsGA
XM_005260856.3:c.2927+26_2927+27delinsGA XP_005260913.1:n.2927+26_2927+27delinsGA
XM_005260857.1:c.2501+26_2501+27delinsGA XP_005260914.1:n.2501+26_2501+27delinsGA
XM_011529383.1:c.2525+26_2525+27delinsGA XP_011527685.1:n.2525+26_2525+27delinsGA
XM_011529384.1:c.2501+26_2501+27delinsGA XP_011527686.1:n.2501+26_2501+27delinsGA
XM_011529385.1:c.2501+26_2501+27delinsGA XP_011527687.1:n.2501+26_2501+27delinsGA
XR_937167.1:n.2656+26_2656+27delinsGA
NM_001363745.1:c.2444+26_2444+27delinsGA NP_001350674.1:n.2444+26_2444+27delinsGA
NR_135000.1:n.2656+26_2656+27delinsGA
XM_005260856.5:c.2927+26_2927+27delinsGA XP_005260913.1:n.2927+26_2927+27delinsGA
XM_011529383.3:c.2525+26_2525+27delinsGA XP_011527685.1:n.2525+26_2525+27delinsGA
XM_017028093.1:c.2921+26_2921+27delinsGA XP_016883582.1:n.2921+26_2921+27delinsGA
XM_017028094.1:c.2501+26_2501+27delinsGA XP_016883583.1:n.2501+26_2501+27delinsGA
XM_017028096.1:c.2501+26_2501+27delinsGA XP_016883585.1:n.2501+26_2501+27delinsGA
XR_001754419.1:n.3101+26_3101+27delinsGA
XR_001754420.2:n.3081+26_3081+27delinsGA
NM_001174089.2:c.2558+26_2558+27delinsGA MANE Select NP_001167560.1:n.2558+26_2558+27delinsGA
NM_001363745.2:c.2444+26_2444+27delinsGA NP_001350674.1:n.2444+26_2444+27delinsGA
NM_001174090.2:c.2687+26_2687+27delinsGA NP_001167561.1:n.2687+26_2687+27delinsGA
NM_032034.4:c.2606+26_2606+27delinsGA NP_114423.1:n.2606+26_2606+27delinsGA
NM_001400277.1:c.2501+26_2501+27delinsGA NP_001387206.1:n.2501+26_2501+27delinsGA
NM_001400278.1:c.2501+26_2501+27delinsGA NP_001387207.1:n.2501+26_2501+27delinsGA
NM_001400279.1:c.2501+26_2501+27delinsGA NP_001387208.1:n.2501+26_2501+27delinsGA
NM_001400280.1:c.2573+26_2573+27delinsGA NP_001387209.1:n.2573+26_2573+27delinsGA
NR_174470.1:n.3081+26_3081+27delinsGA
NR_174471.1:n.3066+26_3066+27delinsGA