Canonical Allele Identifier: CA1014849435

Gene: SLC4A11

Linked Data

• gnomAD v3: 20-3228032-A-ACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCT
• gnomAD v4: 20-3228032-A-ACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228056_3228109dup , CM000682.2:g.3228056_3228109dup	GRCh38
NC_000020.10:g.3208702_3208755dup , CM000682.1:g.3208702_3208755dup	GRCh37
NC_000020.9:g.3156702_3156755dup	NCBI36
NG_017072.1:g.16156_16209dup
NG_012093.2:g.24190_24243dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642402.1:c.2558+173_2559-177dup MANE Select	ENSP00000493503.1:n.2558+173_2559-177dup
ENST00000644011.1:c.2489+173_2490-177dup	ENSP00000496214.1:n.2489+173_2490-177dup
ENST00000644692.1:c.2357+173_2358-177dup	ENSP00000493824.1:n.2357+173_2358-177dup
ENST00000647296.1:c.2444+173_2445-177dup	ENSP00000495050.1:n.2444+173_2445-177dup
ENST00000380056.7:c.2606+173_2607-177dup	ENSP00000369396.3:n.2606+173_2607-177dup
ENST00000380059.7:c.2687+173_2688-177dup	ENSP00000369399.3:n.2687+173_2688-177dup
ENST00000474451.5:c.*706+173_*707-177dup	ENSP00000476859.1:n.*706+173_*707-177dup
ENST00000539553.6:c.2558+173_2559-177dup	ENSP00000441370.1:n.2558+173_2559-177dup
NM_001174089.1:c.2558+173_2559-177dup	NP_001167560.1:n.2558+173_2559-177dup
NM_001174090.1:c.2687+173_2688-177dup	NP_001167561.1:n.2687+173_2688-177dup
NM_032034.3:c.2606+173_2607-177dup	NP_114423.1:n.2606+173_2607-177dup
XM_005260856.3:c.2927+173_2928-177dup	XP_005260913.1:n.2927+173_2928-177dup
XM_005260857.1:c.2501+173_2502-177dup	XP_005260914.1:n.2501+173_2502-177dup
XM_011529383.1:c.2525+173_2526-177dup	XP_011527685.1:n.2525+173_2526-177dup
XM_011529384.1:c.2501+173_2502-177dup	XP_011527686.1:n.2501+173_2502-177dup
XM_011529385.1:c.2501+173_2502-177dup	XP_011527687.1:n.2501+173_2502-177dup
XR_937167.1:n.2656+173_2657-177dup
NM_001363745.1:c.2444+173_2445-177dup	NP_001350674.1:n.2444+173_2445-177dup
NR_135000.1:n.2656+173_2657-177dup
XM_005260856.5:c.2927+173_2928-177dup	XP_005260913.1:n.2927+173_2928-177dup
XM_011529383.3:c.2525+173_2526-177dup	XP_011527685.1:n.2525+173_2526-177dup
XM_017028093.1:c.2921+173_2922-177dup	XP_016883582.1:n.2921+173_2922-177dup
XM_017028094.1:c.2501+173_2502-177dup	XP_016883583.1:n.2501+173_2502-177dup
XM_017028096.1:c.2501+173_2502-177dup	XP_016883585.1:n.2501+173_2502-177dup
XR_001754419.1:n.3101+173_3102-177dup
XR_001754420.2:n.3081+173_3082-177dup
NM_001174089.2:c.2558+173_2559-177dup MANE Select	NP_001167560.1:n.2558+173_2559-177dup
NM_001363745.2:c.2444+173_2445-177dup	NP_001350674.1:n.2444+173_2445-177dup
NM_001174090.2:c.2687+173_2688-177dup	NP_001167561.1:n.2687+173_2688-177dup
NM_032034.4:c.2606+173_2607-177dup	NP_114423.1:n.2606+173_2607-177dup
NM_001400277.1:c.2501+173_2502-177dup	NP_001387206.1:n.2501+173_2502-177dup
NM_001400278.1:c.2501+173_2502-177dup	NP_001387207.1:n.2501+173_2502-177dup
NM_001400279.1:c.2501+173_2502-177dup	NP_001387208.1:n.2501+173_2502-177dup
NM_001400280.1:c.2573+173_2574-177dup	NP_001387209.1:n.2573+173_2574-177dup
NR_174470.1:n.3081+173_3082-177dup
NR_174471.1:n.3066+173_3067-177dup