Canonical Allele Identifier: CA2651691077
Gene: SLC4A11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3228149_3228150insCCCCCTTCTCCCCCCCC , CM000682.2:g.3228149_3228150insCCCCCTTCTCCCCCCCC GRCh38
NC_000020.10:g.3208795_3208796insCCCCCTTCTCCCCCCCC , CM000682.1:g.3208795_3208796insCCCCCTTCTCCCCCCCC GRCh37
NC_000020.9:g.3156795_3156796insCCCCCTTCTCCCCCCCC NCBI36
NG_017072.1:g.16095_16096insGGGGGAGAAGGGGGGGG
NG_012093.2:g.24283_24284insCCCCCTTCTCCCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000642402.1:c.2558+112_2558+113insGGGGGAGAAGGGGGGGG MANE Select ENSP00000493503.1:n.2558+112_2558+113insGGGGGAGAAGGGGGGGG
ENST00000644011.1:c.2489+112_2489+113insGGGGGAGAAGGGGGGGG ENSP00000496214.1:n.2489+112_2489+113insGGGGGAGAAGGGGGGGG
ENST00000644692.1:c.2357+112_2357+113insGGGGGAGAAGGGGGGGG ENSP00000493824.1:n.2357+112_2357+113insGGGGGAGAAGGGGGGGG
ENST00000647296.1:c.2444+112_2444+113insGGGGGAGAAGGGGGGGG ENSP00000495050.1:n.2444+112_2444+113insGGGGGAGAAGGGGGGGG
ENST00000380056.7:c.2606+112_2606+113insGGGGGAGAAGGGGGGGG ENSP00000369396.3:n.2606+112_2606+113insGGGGGAGAAGGGGGGGG
ENST00000380059.7:c.2687+112_2687+113insGGGGGAGAAGGGGGGGG ENSP00000369399.3:n.2687+112_2687+113insGGGGGAGAAGGGGGGGG
ENST00000474451.5:c.*706+112_*706+113insGGGGGAGAAGGGGGGGG ENSP00000476859.1:n.*706+112_*706+113insGGGGGAGAAGGGGGGGG
ENST00000539553.6:c.2558+112_2558+113insGGGGGAGAAGGGGGGGG ENSP00000441370.1:n.2558+112_2558+113insGGGGGAGAAGGGGGGGG
NM_001174089.1:c.2558+112_2558+113insGGGGGAGAAGGGGGGGG NP_001167560.1:n.2558+112_2558+113insGGGGGAGAAGGGGGGGG
NM_001174090.1:c.2687+112_2687+113insGGGGGAGAAGGGGGGGG NP_001167561.1:n.2687+112_2687+113insGGGGGAGAAGGGGGGGG
NM_032034.3:c.2606+112_2606+113insGGGGGAGAAGGGGGGGG NP_114423.1:n.2606+112_2606+113insGGGGGAGAAGGGGGGGG
XM_005260856.3:c.2927+112_2927+113insGGGGGAGAAGGGGGGGG XP_005260913.1:n.2927+112_2927+113insGGGGGAGAAGGGGGGGG
XM_005260857.1:c.2501+112_2501+113insGGGGGAGAAGGGGGGGG XP_005260914.1:n.2501+112_2501+113insGGGGGAGAAGGGGGGGG
XM_011529383.1:c.2525+112_2525+113insGGGGGAGAAGGGGGGGG XP_011527685.1:n.2525+112_2525+113insGGGGGAGAAGGGGGGGG
XM_011529384.1:c.2501+112_2501+113insGGGGGAGAAGGGGGGGG XP_011527686.1:n.2501+112_2501+113insGGGGGAGAAGGGGGGGG
XM_011529385.1:c.2501+112_2501+113insGGGGGAGAAGGGGGGGG XP_011527687.1:n.2501+112_2501+113insGGGGGAGAAGGGGGGGG
XR_937167.1:n.2656+112_2656+113insGGGGGAGAAGGGGGGGG
NM_001363745.1:c.2444+112_2444+113insGGGGGAGAAGGGGGGGG NP_001350674.1:n.2444+112_2444+113insGGGGGAGAAGGGGGGGG
NR_135000.1:n.2656+112_2656+113insGGGGGAGAAGGGGGGGG
XM_005260856.5:c.2927+112_2927+113insGGGGGAGAAGGGGGGGG XP_005260913.1:n.2927+112_2927+113insGGGGGAGAAGGGGGGGG
XM_011529383.3:c.2525+112_2525+113insGGGGGAGAAGGGGGGGG XP_011527685.1:n.2525+112_2525+113insGGGGGAGAAGGGGGGGG
XM_017028093.1:c.2921+112_2921+113insGGGGGAGAAGGGGGGGG XP_016883582.1:n.2921+112_2921+113insGGGGGAGAAGGGGGGGG
XM_017028094.1:c.2501+112_2501+113insGGGGGAGAAGGGGGGGG XP_016883583.1:n.2501+112_2501+113insGGGGGAGAAGGGGGGGG
XM_017028096.1:c.2501+112_2501+113insGGGGGAGAAGGGGGGGG XP_016883585.1:n.2501+112_2501+113insGGGGGAGAAGGGGGGGG
XR_001754419.1:n.3101+112_3101+113insGGGGGAGAAGGGGGGGG
XR_001754420.2:n.3081+112_3081+113insGGGGGAGAAGGGGGGGG
NM_001174089.2:c.2558+112_2558+113insGGGGGAGAAGGGGGGGG MANE Select NP_001167560.1:n.2558+112_2558+113insGGGGGAGAAGGGGGGGG
NM_001363745.2:c.2444+112_2444+113insGGGGGAGAAGGGGGGGG NP_001350674.1:n.2444+112_2444+113insGGGGGAGAAGGGGGGGG
NM_001174090.2:c.2687+112_2687+113insGGGGGAGAAGGGGGGGG NP_001167561.1:n.2687+112_2687+113insGGGGGAGAAGGGGGGGG
NM_032034.4:c.2606+112_2606+113insGGGGGAGAAGGGGGGGG NP_114423.1:n.2606+112_2606+113insGGGGGAGAAGGGGGGGG
NM_001400277.1:c.2501+112_2501+113insGGGGGAGAAGGGGGGGG NP_001387206.1:n.2501+112_2501+113insGGGGGAGAAGGGGGGGG
NM_001400278.1:c.2501+112_2501+113insGGGGGAGAAGGGGGGGG NP_001387207.1:n.2501+112_2501+113insGGGGGAGAAGGGGGGGG
NM_001400279.1:c.2501+112_2501+113insGGGGGAGAAGGGGGGGG NP_001387208.1:n.2501+112_2501+113insGGGGGAGAAGGGGGGGG
NM_001400280.1:c.2573+112_2573+113insGGGGGAGAAGGGGGGGG NP_001387209.1:n.2573+112_2573+113insGGGGGAGAAGGGGGGGG
NR_174470.1:n.3081+112_3081+113insGGGGGAGAAGGGGGGGG
NR_174471.1:n.3066+112_3066+113insGGGGGAGAAGGGGGGGG