Canonical Allele Identifier: CA2651691094

Gene: SLC4A11

Linked Data

• gnomAD v4: 20-3228150-GCCCATTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228153_3228160del , CM000682.2:g.3228153_3228160del	GRCh38
NC_000020.10:g.3208799_3208806del , CM000682.1:g.3208799_3208806del	GRCh37
NC_000020.9:g.3156799_3156806del	NCBI36
NG_017072.1:g.16084_16091del
NG_012093.2:g.24287_24294del

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2558+101_2558+108del MANE Select	ENSP00000493503.1:n.2558+101_2558+108del
ENST00000644011.1:c.2489+101_2489+108del	ENSP00000496214.1:n.2489+101_2489+108del
ENST00000644692.1:c.2357+101_2357+108del	ENSP00000493824.1:n.2357+101_2357+108del
ENST00000647296.1:c.2444+101_2444+108del	ENSP00000495050.1:n.2444+101_2444+108del
ENST00000380056.7:c.2606+101_2606+108del	ENSP00000369396.3:n.2606+101_2606+108del
ENST00000380059.7:c.2687+101_2687+108del	ENSP00000369399.3:n.2687+101_2687+108del
ENST00000474451.5:c.*706+101_*706+108del	ENSP00000476859.1:n.*706+101_*706+108del
ENST00000539553.6:c.2558+101_2558+108del	ENSP00000441370.1:n.2558+101_2558+108del
NM_001174089.1:c.2558+101_2558+108del	NP_001167560.1:n.2558+101_2558+108del
NM_001174090.1:c.2687+101_2687+108del	NP_001167561.1:n.2687+101_2687+108del
NM_032034.3:c.2606+101_2606+108del	NP_114423.1:n.2606+101_2606+108del
XM_005260856.3:c.2927+101_2927+108del	XP_005260913.1:n.2927+101_2927+108del
XM_005260857.1:c.2501+101_2501+108del	XP_005260914.1:n.2501+101_2501+108del
XM_011529383.1:c.2525+101_2525+108del	XP_011527685.1:n.2525+101_2525+108del
XM_011529384.1:c.2501+101_2501+108del	XP_011527686.1:n.2501+101_2501+108del
XM_011529385.1:c.2501+101_2501+108del	XP_011527687.1:n.2501+101_2501+108del
XR_937167.1:n.2656+101_2656+108del
NM_001363745.1:c.2444+101_2444+108del	NP_001350674.1:n.2444+101_2444+108del
NR_135000.1:n.2656+101_2656+108del
XM_005260856.5:c.2927+101_2927+108del	XP_005260913.1:n.2927+101_2927+108del
XM_011529383.3:c.2525+101_2525+108del	XP_011527685.1:n.2525+101_2525+108del
XM_017028093.1:c.2921+101_2921+108del	XP_016883582.1:n.2921+101_2921+108del
XM_017028094.1:c.2501+101_2501+108del	XP_016883583.1:n.2501+101_2501+108del
XM_017028096.1:c.2501+101_2501+108del	XP_016883585.1:n.2501+101_2501+108del
XR_001754419.1:n.3101+101_3101+108del
XR_001754420.2:n.3081+101_3081+108del
NM_001174089.2:c.2558+101_2558+108del MANE Select	NP_001167560.1:n.2558+101_2558+108del
NM_001363745.2:c.2444+101_2444+108del	NP_001350674.1:n.2444+101_2444+108del
NM_001174090.2:c.2687+101_2687+108del	NP_001167561.1:n.2687+101_2687+108del
NM_032034.4:c.2606+101_2606+108del	NP_114423.1:n.2606+101_2606+108del
NM_001400277.1:c.2501+101_2501+108del	NP_001387206.1:n.2501+101_2501+108del
NM_001400278.1:c.2501+101_2501+108del	NP_001387207.1:n.2501+101_2501+108del
NM_001400279.1:c.2501+101_2501+108del	NP_001387208.1:n.2501+101_2501+108del
NM_001400280.1:c.2573+101_2573+108del	NP_001387209.1:n.2573+101_2573+108del
NR_174470.1:n.3081+101_3081+108del
NR_174471.1:n.3066+101_3066+108del