Canonical Allele Identifier: CA2651690951
Gene: SLC4A11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3228134_3228135dup , CM000682.2:g.3228134_3228135dup GRCh38
NC_000020.10:g.3208780_3208781dup , CM000682.1:g.3208780_3208781dup GRCh37
NC_000020.9:g.3156780_3156781dup NCBI36
NG_017072.1:g.16107_16108dup
NG_012093.2:g.24268_24269dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000642402.1:c.2558+124_2558+125dup MANE Select ENSP00000493503.1:n.2558+124_2558+125dup
ENST00000644011.1:c.2489+124_2489+125dup ENSP00000496214.1:n.2489+124_2489+125dup
ENST00000644692.1:c.2357+124_2357+125dup ENSP00000493824.1:n.2357+124_2357+125dup
ENST00000647296.1:c.2444+124_2444+125dup ENSP00000495050.1:n.2444+124_2444+125dup
ENST00000380056.7:c.2606+124_2606+125dup ENSP00000369396.3:n.2606+124_2606+125dup
ENST00000380059.7:c.2687+124_2687+125dup ENSP00000369399.3:n.2687+124_2687+125dup
ENST00000474451.5:c.*706+124_*706+125dup ENSP00000476859.1:n.*706+124_*706+125dup
ENST00000539553.6:c.2558+124_2558+125dup ENSP00000441370.1:n.2558+124_2558+125dup
NM_001174089.1:c.2558+124_2558+125dup NP_001167560.1:n.2558+124_2558+125dup
NM_001174090.1:c.2687+124_2687+125dup NP_001167561.1:n.2687+124_2687+125dup
NM_032034.3:c.2606+124_2606+125dup NP_114423.1:n.2606+124_2606+125dup
XM_005260856.3:c.2927+124_2927+125dup XP_005260913.1:n.2927+124_2927+125dup
XM_005260857.1:c.2501+124_2501+125dup XP_005260914.1:n.2501+124_2501+125dup
XM_011529383.1:c.2525+124_2525+125dup XP_011527685.1:n.2525+124_2525+125dup
XM_011529384.1:c.2501+124_2501+125dup XP_011527686.1:n.2501+124_2501+125dup
XM_011529385.1:c.2501+124_2501+125dup XP_011527687.1:n.2501+124_2501+125dup
XR_937167.1:n.2656+124_2656+125dup
NM_001363745.1:c.2444+124_2444+125dup NP_001350674.1:n.2444+124_2444+125dup
NR_135000.1:n.2656+124_2656+125dup
XM_005260856.5:c.2927+124_2927+125dup XP_005260913.1:n.2927+124_2927+125dup
XM_011529383.3:c.2525+124_2525+125dup XP_011527685.1:n.2525+124_2525+125dup
XM_017028093.1:c.2921+124_2921+125dup XP_016883582.1:n.2921+124_2921+125dup
XM_017028094.1:c.2501+124_2501+125dup XP_016883583.1:n.2501+124_2501+125dup
XM_017028096.1:c.2501+124_2501+125dup XP_016883585.1:n.2501+124_2501+125dup
XR_001754419.1:n.3101+124_3101+125dup
XR_001754420.2:n.3081+124_3081+125dup
NM_001174089.2:c.2558+124_2558+125dup MANE Select NP_001167560.1:n.2558+124_2558+125dup
NM_001363745.2:c.2444+124_2444+125dup NP_001350674.1:n.2444+124_2444+125dup
NM_001174090.2:c.2687+124_2687+125dup NP_001167561.1:n.2687+124_2687+125dup
NM_032034.4:c.2606+124_2606+125dup NP_114423.1:n.2606+124_2606+125dup
NM_001400277.1:c.2501+124_2501+125dup NP_001387206.1:n.2501+124_2501+125dup
NM_001400278.1:c.2501+124_2501+125dup NP_001387207.1:n.2501+124_2501+125dup
NM_001400279.1:c.2501+124_2501+125dup NP_001387208.1:n.2501+124_2501+125dup
NM_001400280.1:c.2573+124_2573+125dup NP_001387209.1:n.2573+124_2573+125dup
NR_174470.1:n.3081+124_3081+125dup
NR_174471.1:n.3066+124_3066+125dup