Canonical Allele Identifier: CA1014849462

Gene: SLC4A11

Linked Data

• gnomAD v3: 20-3228109-CCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACA-C
• gnomAD v4: 20-3228109-CCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228115_3228221del , CM000682.2:g.3228115_3228221del	GRCh38
NC_000020.10:g.3208761_3208867del , CM000682.1:g.3208761_3208867del	GRCh37
NC_000020.9:g.3156761_3156867del	NCBI36
NG_017072.1:g.16026_16132del
NG_012093.2:g.24249_24355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642402.1:c.2558+43_2558+149del MANE Select	ENSP00000493503.1:n.2558+43_2558+149del
ENST00000644011.1:c.2489+43_2489+149del	ENSP00000496214.1:n.2489+43_2489+149del
ENST00000644692.1:c.2357+43_2357+149del	ENSP00000493824.1:n.2357+43_2357+149del
ENST00000647296.1:c.2444+43_2444+149del	ENSP00000495050.1:n.2444+43_2444+149del
ENST00000380056.7:c.2606+43_2606+149del	ENSP00000369396.3:n.2606+43_2606+149del
ENST00000380059.7:c.2687+43_2687+149del	ENSP00000369399.3:n.2687+43_2687+149del
ENST00000474451.5:c.*706+43_*706+149del	ENSP00000476859.1:n.*706+43_*706+149del
ENST00000539553.6:c.2558+43_2558+149del	ENSP00000441370.1:n.2558+43_2558+149del
NM_001174089.1:c.2558+43_2558+149del	NP_001167560.1:n.2558+43_2558+149del
NM_001174090.1:c.2687+43_2687+149del	NP_001167561.1:n.2687+43_2687+149del
NM_032034.3:c.2606+43_2606+149del	NP_114423.1:n.2606+43_2606+149del
XM_005260856.3:c.2927+43_2927+149del	XP_005260913.1:n.2927+43_2927+149del
XM_005260857.1:c.2501+43_2501+149del	XP_005260914.1:n.2501+43_2501+149del
XM_011529383.1:c.2525+43_2525+149del	XP_011527685.1:n.2525+43_2525+149del
XM_011529384.1:c.2501+43_2501+149del	XP_011527686.1:n.2501+43_2501+149del
XM_011529385.1:c.2501+43_2501+149del	XP_011527687.1:n.2501+43_2501+149del
XR_937167.1:n.2656+43_2656+149del
NM_001363745.1:c.2444+43_2444+149del	NP_001350674.1:n.2444+43_2444+149del
NR_135000.1:n.2656+43_2656+149del
XM_005260856.5:c.2927+43_2927+149del	XP_005260913.1:n.2927+43_2927+149del
XM_011529383.3:c.2525+43_2525+149del	XP_011527685.1:n.2525+43_2525+149del
XM_017028093.1:c.2921+43_2921+149del	XP_016883582.1:n.2921+43_2921+149del
XM_017028094.1:c.2501+43_2501+149del	XP_016883583.1:n.2501+43_2501+149del
XM_017028096.1:c.2501+43_2501+149del	XP_016883585.1:n.2501+43_2501+149del
XR_001754419.1:n.3101+43_3101+149del
XR_001754420.2:n.3081+43_3081+149del
NM_001174089.2:c.2558+43_2558+149del MANE Select	NP_001167560.1:n.2558+43_2558+149del
NM_001363745.2:c.2444+43_2444+149del	NP_001350674.1:n.2444+43_2444+149del
NM_001174090.2:c.2687+43_2687+149del	NP_001167561.1:n.2687+43_2687+149del
NM_032034.4:c.2606+43_2606+149del	NP_114423.1:n.2606+43_2606+149del
NM_001400277.1:c.2501+43_2501+149del	NP_001387206.1:n.2501+43_2501+149del
NM_001400278.1:c.2501+43_2501+149del	NP_001387207.1:n.2501+43_2501+149del
NM_001400279.1:c.2501+43_2501+149del	NP_001387208.1:n.2501+43_2501+149del
NM_001400280.1:c.2573+43_2573+149del	NP_001387209.1:n.2573+43_2573+149del
NR_174470.1:n.3081+43_3081+149del
NR_174471.1:n.3066+43_3066+149del