Canonical Allele Identifier: CA1014849464

Gene: SLC4A11

Linked Data

• gnomAD v3: 20-3228115-GCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGA-G
• gnomAD v4: 20-3228115-GCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228117_3228223del , CM000682.2:g.3228117_3228223del	GRCh38
NC_000020.10:g.3208763_3208869del , CM000682.1:g.3208763_3208869del	GRCh37
NC_000020.9:g.3156763_3156869del	NCBI36
NG_017072.1:g.16020_16126del
NG_012093.2:g.24251_24357del

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2558+37_2558+143del MANE Select	ENSP00000493503.1:n.2558+37_2558+143del
ENST00000644011.1:c.2489+37_2489+143del	ENSP00000496214.1:n.2489+37_2489+143del
ENST00000644692.1:c.2357+37_2357+143del	ENSP00000493824.1:n.2357+37_2357+143del
ENST00000647296.1:c.2444+37_2444+143del	ENSP00000495050.1:n.2444+37_2444+143del
ENST00000380056.7:c.2606+37_2606+143del	ENSP00000369396.3:n.2606+37_2606+143del
ENST00000380059.7:c.2687+37_2687+143del	ENSP00000369399.3:n.2687+37_2687+143del
ENST00000474451.5:c.*706+37_*706+143del	ENSP00000476859.1:n.*706+37_*706+143del
ENST00000539553.6:c.2558+37_2558+143del	ENSP00000441370.1:n.2558+37_2558+143del
NM_001174089.1:c.2558+37_2558+143del	NP_001167560.1:n.2558+37_2558+143del
NM_001174090.1:c.2687+37_2687+143del	NP_001167561.1:n.2687+37_2687+143del
NM_032034.3:c.2606+37_2606+143del	NP_114423.1:n.2606+37_2606+143del
XM_005260856.3:c.2927+37_2927+143del	XP_005260913.1:n.2927+37_2927+143del
XM_005260857.1:c.2501+37_2501+143del	XP_005260914.1:n.2501+37_2501+143del
XM_011529383.1:c.2525+37_2525+143del	XP_011527685.1:n.2525+37_2525+143del
XM_011529384.1:c.2501+37_2501+143del	XP_011527686.1:n.2501+37_2501+143del
XM_011529385.1:c.2501+37_2501+143del	XP_011527687.1:n.2501+37_2501+143del
XR_937167.1:n.2656+37_2656+143del
NM_001363745.1:c.2444+37_2444+143del	NP_001350674.1:n.2444+37_2444+143del
NR_135000.1:n.2656+37_2656+143del
XM_005260856.5:c.2927+37_2927+143del	XP_005260913.1:n.2927+37_2927+143del
XM_011529383.3:c.2525+37_2525+143del	XP_011527685.1:n.2525+37_2525+143del
XM_017028093.1:c.2921+37_2921+143del	XP_016883582.1:n.2921+37_2921+143del
XM_017028094.1:c.2501+37_2501+143del	XP_016883583.1:n.2501+37_2501+143del
XM_017028096.1:c.2501+37_2501+143del	XP_016883585.1:n.2501+37_2501+143del
XR_001754419.1:n.3101+37_3101+143del
XR_001754420.2:n.3081+37_3081+143del
NM_001174089.2:c.2558+37_2558+143del MANE Select	NP_001167560.1:n.2558+37_2558+143del
NM_001363745.2:c.2444+37_2444+143del	NP_001350674.1:n.2444+37_2444+143del
NM_001174090.2:c.2687+37_2687+143del	NP_001167561.1:n.2687+37_2687+143del
NM_032034.4:c.2606+37_2606+143del	NP_114423.1:n.2606+37_2606+143del
NM_001400277.1:c.2501+37_2501+143del	NP_001387206.1:n.2501+37_2501+143del
NM_001400278.1:c.2501+37_2501+143del	NP_001387207.1:n.2501+37_2501+143del
NM_001400279.1:c.2501+37_2501+143del	NP_001387208.1:n.2501+37_2501+143del
NM_001400280.1:c.2573+37_2573+143del	NP_001387209.1:n.2573+37_2573+143del
NR_174470.1:n.3081+37_3081+143del
NR_174471.1:n.3066+37_3066+143del