Canonical Allele Identifier: CA1014849418

Gene: SLC4A11

Linked Data

• gnomAD v3: 20-3228011-AGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGG-A
• gnomAD v4: 20-3228011-AGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228027_3228241del , CM000682.2:g.3228027_3228241del	GRCh38
NC_000020.10:g.3208673_3208887del , CM000682.1:g.3208673_3208887del	GRCh37
NC_000020.9:g.3156673_3156887del	NCBI36
NG_017072.1:g.16016_16230del
NG_012093.2:g.24161_24375del

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2558+33_2559-156del MANE Select	ENSP00000493503.1:n.2558+33_2559-156del
ENST00000644011.1:c.2489+33_2490-156del	ENSP00000496214.1:n.2489+33_2490-156del
ENST00000644692.1:c.2357+33_2358-156del	ENSP00000493824.1:n.2357+33_2358-156del
ENST00000647296.1:c.2444+33_2445-156del	ENSP00000495050.1:n.2444+33_2445-156del
ENST00000380056.7:c.2606+33_2607-156del	ENSP00000369396.3:n.2606+33_2607-156del
ENST00000380059.7:c.2687+33_2688-156del	ENSP00000369399.3:n.2687+33_2688-156del
ENST00000474451.5:c.*706+33_*707-156del	ENSP00000476859.1:n.*706+33_*707-156del
ENST00000539553.6:c.2558+33_2559-156del	ENSP00000441370.1:n.2558+33_2559-156del
NM_001174089.1:c.2558+33_2559-156del	NP_001167560.1:n.2558+33_2559-156del
NM_001174090.1:c.2687+33_2688-156del	NP_001167561.1:n.2687+33_2688-156del
NM_032034.3:c.2606+33_2607-156del	NP_114423.1:n.2606+33_2607-156del
XM_005260856.3:c.2927+33_2928-156del	XP_005260913.1:n.2927+33_2928-156del
XM_005260857.1:c.2501+33_2502-156del	XP_005260914.1:n.2501+33_2502-156del
XM_011529383.1:c.2525+33_2526-156del	XP_011527685.1:n.2525+33_2526-156del
XM_011529384.1:c.2501+33_2502-156del	XP_011527686.1:n.2501+33_2502-156del
XM_011529385.1:c.2501+33_2502-156del	XP_011527687.1:n.2501+33_2502-156del
XR_937167.1:n.2656+33_2657-156del
NM_001363745.1:c.2444+33_2445-156del	NP_001350674.1:n.2444+33_2445-156del
NR_135000.1:n.2656+33_2657-156del
XM_005260856.5:c.2927+33_2928-156del	XP_005260913.1:n.2927+33_2928-156del
XM_011529383.3:c.2525+33_2526-156del	XP_011527685.1:n.2525+33_2526-156del
XM_017028093.1:c.2921+33_2922-156del	XP_016883582.1:n.2921+33_2922-156del
XM_017028094.1:c.2501+33_2502-156del	XP_016883583.1:n.2501+33_2502-156del
XM_017028096.1:c.2501+33_2502-156del	XP_016883585.1:n.2501+33_2502-156del
XR_001754419.1:n.3101+33_3102-156del
XR_001754420.2:n.3081+33_3082-156del
NM_001174089.2:c.2558+33_2559-156del MANE Select	NP_001167560.1:n.2558+33_2559-156del
NM_001363745.2:c.2444+33_2445-156del	NP_001350674.1:n.2444+33_2445-156del
NM_001174090.2:c.2687+33_2688-156del	NP_001167561.1:n.2687+33_2688-156del
NM_032034.4:c.2606+33_2607-156del	NP_114423.1:n.2606+33_2607-156del
NM_001400277.1:c.2501+33_2502-156del	NP_001387206.1:n.2501+33_2502-156del
NM_001400278.1:c.2501+33_2502-156del	NP_001387207.1:n.2501+33_2502-156del
NM_001400279.1:c.2501+33_2502-156del	NP_001387208.1:n.2501+33_2502-156del
NM_001400280.1:c.2573+33_2574-156del	NP_001387209.1:n.2573+33_2574-156del
NR_174470.1:n.3081+33_3082-156del
NR_174471.1:n.3066+33_3067-156del