Canonical Allele Identifier: CA1014849465

Gene: SLC4A11

Linked Data

• gnomAD v3: 20-3228117-AGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTG-A
• gnomAD v4: 20-3228117-AGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228131_3228184del , CM000682.2:g.3228131_3228184del	GRCh38
NC_000020.10:g.3208777_3208830del , CM000682.1:g.3208777_3208830del	GRCh37
NC_000020.9:g.3156777_3156830del	NCBI36
NG_017072.1:g.16071_16124del
NG_012093.2:g.24265_24318del

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2558+88_2558+141del MANE Select	ENSP00000493503.1:n.2558+88_2558+141del
ENST00000644011.1:c.2489+88_2489+141del	ENSP00000496214.1:n.2489+88_2489+141del
ENST00000644692.1:c.2357+88_2357+141del	ENSP00000493824.1:n.2357+88_2357+141del
ENST00000647296.1:c.2444+88_2444+141del	ENSP00000495050.1:n.2444+88_2444+141del
ENST00000380056.7:c.2606+88_2606+141del	ENSP00000369396.3:n.2606+88_2606+141del
ENST00000380059.7:c.2687+88_2687+141del	ENSP00000369399.3:n.2687+88_2687+141del
ENST00000474451.5:c.*706+88_*706+141del	ENSP00000476859.1:n.*706+88_*706+141del
ENST00000539553.6:c.2558+88_2558+141del	ENSP00000441370.1:n.2558+88_2558+141del
NM_001174089.1:c.2558+88_2558+141del	NP_001167560.1:n.2558+88_2558+141del
NM_001174090.1:c.2687+88_2687+141del	NP_001167561.1:n.2687+88_2687+141del
NM_032034.3:c.2606+88_2606+141del	NP_114423.1:n.2606+88_2606+141del
XM_005260856.3:c.2927+88_2927+141del	XP_005260913.1:n.2927+88_2927+141del
XM_005260857.1:c.2501+88_2501+141del	XP_005260914.1:n.2501+88_2501+141del
XM_011529383.1:c.2525+88_2525+141del	XP_011527685.1:n.2525+88_2525+141del
XM_011529384.1:c.2501+88_2501+141del	XP_011527686.1:n.2501+88_2501+141del
XM_011529385.1:c.2501+88_2501+141del	XP_011527687.1:n.2501+88_2501+141del
XR_937167.1:n.2656+88_2656+141del
NM_001363745.1:c.2444+88_2444+141del	NP_001350674.1:n.2444+88_2444+141del
NR_135000.1:n.2656+88_2656+141del
XM_005260856.5:c.2927+88_2927+141del	XP_005260913.1:n.2927+88_2927+141del
XM_011529383.3:c.2525+88_2525+141del	XP_011527685.1:n.2525+88_2525+141del
XM_017028093.1:c.2921+88_2921+141del	XP_016883582.1:n.2921+88_2921+141del
XM_017028094.1:c.2501+88_2501+141del	XP_016883583.1:n.2501+88_2501+141del
XM_017028096.1:c.2501+88_2501+141del	XP_016883585.1:n.2501+88_2501+141del
XR_001754419.1:n.3101+88_3101+141del
XR_001754420.2:n.3081+88_3081+141del
NM_001174089.2:c.2558+88_2558+141del MANE Select	NP_001167560.1:n.2558+88_2558+141del
NM_001363745.2:c.2444+88_2444+141del	NP_001350674.1:n.2444+88_2444+141del
NM_001174090.2:c.2687+88_2687+141del	NP_001167561.1:n.2687+88_2687+141del
NM_032034.4:c.2606+88_2606+141del	NP_114423.1:n.2606+88_2606+141del
NM_001400277.1:c.2501+88_2501+141del	NP_001387206.1:n.2501+88_2501+141del
NM_001400278.1:c.2501+88_2501+141del	NP_001387207.1:n.2501+88_2501+141del
NM_001400279.1:c.2501+88_2501+141del	NP_001387208.1:n.2501+88_2501+141del
NM_001400280.1:c.2573+88_2573+141del	NP_001387209.1:n.2573+88_2573+141del
NR_174470.1:n.3081+88_3081+141del
NR_174471.1:n.3066+88_3066+141del