Canonical Allele Identifier: CA2651691046

Gene: SLC4A11

Linked Data

• gnomAD v4: 20-3228144-C-CCCCCCCCCCCAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228144_3228145insCCCCCCCCCCAAAA , CM000682.2:g.3228144_3228145insCCCCCCCCCCAAAA	GRCh38
NC_000020.10:g.3208790_3208791insCCCCCCCCCCAAAA , CM000682.1:g.3208790_3208791insCCCCCCCCCCAAAA	GRCh37
NC_000020.9:g.3156790_3156791insCCCCCCCCCCAAAA	NCBI36
NG_017072.1:g.16097_16098insTTTTGGGGGGGGGG
NG_012093.2:g.24278_24279insCCCCCCCCCCAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642402.1:c.2558+114_2558+115insTTTTGGGGGGGGGG MANE Select	ENSP00000493503.1:n.2558+114_2558+115insTTTTGGGGGGGGGG
ENST00000644011.1:c.2489+114_2489+115insTTTTGGGGGGGGGG	ENSP00000496214.1:n.2489+114_2489+115insTTTTGGGGGGGGGG
ENST00000644692.1:c.2357+114_2357+115insTTTTGGGGGGGGGG	ENSP00000493824.1:n.2357+114_2357+115insTTTTGGGGGGGGGG
ENST00000647296.1:c.2444+114_2444+115insTTTTGGGGGGGGGG	ENSP00000495050.1:n.2444+114_2444+115insTTTTGGGGGGGGGG
ENST00000380056.7:c.2606+114_2606+115insTTTTGGGGGGGGGG	ENSP00000369396.3:n.2606+114_2606+115insTTTTGGGGGGGGGG
ENST00000380059.7:c.2687+114_2687+115insTTTTGGGGGGGGGG	ENSP00000369399.3:n.2687+114_2687+115insTTTTGGGGGGGGGG
ENST00000474451.5:c.*706+114_*706+115insTTTTGGGGGGGGGG	ENSP00000476859.1:n.*706+114_*706+115insTTTTGGGGGGGGGG
ENST00000539553.6:c.2558+114_2558+115insTTTTGGGGGGGGGG	ENSP00000441370.1:n.2558+114_2558+115insTTTTGGGGGGGGGG
NM_001174089.1:c.2558+114_2558+115insTTTTGGGGGGGGGG	NP_001167560.1:n.2558+114_2558+115insTTTTGGGGGGGGGG
NM_001174090.1:c.2687+114_2687+115insTTTTGGGGGGGGGG	NP_001167561.1:n.2687+114_2687+115insTTTTGGGGGGGGGG
NM_032034.3:c.2606+114_2606+115insTTTTGGGGGGGGGG	NP_114423.1:n.2606+114_2606+115insTTTTGGGGGGGGGG
XM_005260856.3:c.2927+114_2927+115insTTTTGGGGGGGGGG	XP_005260913.1:n.2927+114_2927+115insTTTTGGGGGGGGGG
XM_005260857.1:c.2501+114_2501+115insTTTTGGGGGGGGGG	XP_005260914.1:n.2501+114_2501+115insTTTTGGGGGGGGGG
XM_011529383.1:c.2525+114_2525+115insTTTTGGGGGGGGGG	XP_011527685.1:n.2525+114_2525+115insTTTTGGGGGGGGGG
XM_011529384.1:c.2501+114_2501+115insTTTTGGGGGGGGGG	XP_011527686.1:n.2501+114_2501+115insTTTTGGGGGGGGGG
XM_011529385.1:c.2501+114_2501+115insTTTTGGGGGGGGGG	XP_011527687.1:n.2501+114_2501+115insTTTTGGGGGGGGGG
XR_937167.1:n.2656+114_2656+115insTTTTGGGGGGGGGG
NM_001363745.1:c.2444+114_2444+115insTTTTGGGGGGGGGG	NP_001350674.1:n.2444+114_2444+115insTTTTGGGGGGGGGG
NR_135000.1:n.2656+114_2656+115insTTTTGGGGGGGGGG
XM_005260856.5:c.2927+114_2927+115insTTTTGGGGGGGGGG	XP_005260913.1:n.2927+114_2927+115insTTTTGGGGGGGGGG
XM_011529383.3:c.2525+114_2525+115insTTTTGGGGGGGGGG	XP_011527685.1:n.2525+114_2525+115insTTTTGGGGGGGGGG
XM_017028093.1:c.2921+114_2921+115insTTTTGGGGGGGGGG	XP_016883582.1:n.2921+114_2921+115insTTTTGGGGGGGGGG
XM_017028094.1:c.2501+114_2501+115insTTTTGGGGGGGGGG	XP_016883583.1:n.2501+114_2501+115insTTTTGGGGGGGGGG
XM_017028096.1:c.2501+114_2501+115insTTTTGGGGGGGGGG	XP_016883585.1:n.2501+114_2501+115insTTTTGGGGGGGGGG
XR_001754419.1:n.3101+114_3101+115insTTTTGGGGGGGGGG
XR_001754420.2:n.3081+114_3081+115insTTTTGGGGGGGGGG
NM_001174089.2:c.2558+114_2558+115insTTTTGGGGGGGGGG MANE Select	NP_001167560.1:n.2558+114_2558+115insTTTTGGGGGGGGGG
NM_001363745.2:c.2444+114_2444+115insTTTTGGGGGGGGGG	NP_001350674.1:n.2444+114_2444+115insTTTTGGGGGGGGGG
NM_001174090.2:c.2687+114_2687+115insTTTTGGGGGGGGGG	NP_001167561.1:n.2687+114_2687+115insTTTTGGGGGGGGGG
NM_032034.4:c.2606+114_2606+115insTTTTGGGGGGGGGG	NP_114423.1:n.2606+114_2606+115insTTTTGGGGGGGGGG
NM_001400277.1:c.2501+114_2501+115insTTTTGGGGGGGGGG	NP_001387206.1:n.2501+114_2501+115insTTTTGGGGGGGGGG
NM_001400278.1:c.2501+114_2501+115insTTTTGGGGGGGGGG	NP_001387207.1:n.2501+114_2501+115insTTTTGGGGGGGGGG
NM_001400279.1:c.2501+114_2501+115insTTTTGGGGGGGGGG	NP_001387208.1:n.2501+114_2501+115insTTTTGGGGGGGGGG
NM_001400280.1:c.2573+114_2573+115insTTTTGGGGGGGGGG	NP_001387209.1:n.2573+114_2573+115insTTTTGGGGGGGGGG
NR_174470.1:n.3081+114_3081+115insTTTTGGGGGGGGGG
NR_174471.1:n.3066+114_3066+115insTTTTGGGGGGGGGG