Canonical Allele Identifier: CA2697547268

Gene: SLC4A11

Linked Data

• ClinVar Variation Id: 2718673
• ClinVar RCV Id: RCV003551275

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228246_3228247insCA , CM000682.2:g.3228246_3228247insCA	GRCh38
NC_000020.10:g.3208892_3208893insCA , CM000682.1:g.3208892_3208893insCA	GRCh37
NC_000020.9:g.3156892_3156893insCA	NCBI36
NG_017072.1:g.15995_15996insTG
NG_012093.2:g.24380_24381insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642402.1:c.2558+12_2558+13insTG MANE Select	ENSP00000493503.1:n.2558+12_2558+13insTG
ENST00000644011.1:c.2489+12_2489+13insTG	ENSP00000496214.1:n.2489+12_2489+13insTG
ENST00000644692.1:c.2357+12_2357+13insTG	ENSP00000493824.1:n.2357+12_2357+13insTG
ENST00000647296.1:c.2444+12_2444+13insTG	ENSP00000495050.1:n.2444+12_2444+13insTG
ENST00000380056.7:c.2606+12_2606+13insTG	ENSP00000369396.3:n.2606+12_2606+13insTG
ENST00000380059.7:c.2687+12_2687+13insTG	ENSP00000369399.3:n.2687+12_2687+13insTG
ENST00000474451.5:c.*706+12_*706+13insTG	ENSP00000476859.1:n.*706+12_*706+13insTG
ENST00000539553.6:c.2558+12_2558+13insTG	ENSP00000441370.1:n.2558+12_2558+13insTG
NM_001174089.1:c.2558+12_2558+13insTG	NP_001167560.1:n.2558+12_2558+13insTG
NM_001174090.1:c.2687+12_2687+13insTG	NP_001167561.1:n.2687+12_2687+13insTG
NM_032034.3:c.2606+12_2606+13insTG	NP_114423.1:n.2606+12_2606+13insTG
XM_005260856.3:c.2927+12_2927+13insTG	XP_005260913.1:n.2927+12_2927+13insTG
XM_005260857.1:c.2501+12_2501+13insTG	XP_005260914.1:n.2501+12_2501+13insTG
XM_011529383.1:c.2525+12_2525+13insTG	XP_011527685.1:n.2525+12_2525+13insTG
XM_011529384.1:c.2501+12_2501+13insTG	XP_011527686.1:n.2501+12_2501+13insTG
XM_011529385.1:c.2501+12_2501+13insTG	XP_011527687.1:n.2501+12_2501+13insTG
XR_937167.1:n.2656+12_2656+13insTG
NM_001363745.1:c.2444+12_2444+13insTG	NP_001350674.1:n.2444+12_2444+13insTG
NR_135000.1:n.2656+12_2656+13insTG
XM_005260856.5:c.2927+12_2927+13insTG	XP_005260913.1:n.2927+12_2927+13insTG
XM_011529383.3:c.2525+12_2525+13insTG	XP_011527685.1:n.2525+12_2525+13insTG
XM_017028093.1:c.2921+12_2921+13insTG	XP_016883582.1:n.2921+12_2921+13insTG
XM_017028094.1:c.2501+12_2501+13insTG	XP_016883583.1:n.2501+12_2501+13insTG
XM_017028096.1:c.2501+12_2501+13insTG	XP_016883585.1:n.2501+12_2501+13insTG
XR_001754419.1:n.3101+12_3101+13insTG
XR_001754420.2:n.3081+12_3081+13insTG
NM_001174089.2:c.2558+12_2558+13insTG MANE Select	NP_001167560.1:n.2558+12_2558+13insTG
NM_001363745.2:c.2444+12_2444+13insTG	NP_001350674.1:n.2444+12_2444+13insTG
NM_001174090.2:c.2687+12_2687+13insTG	NP_001167561.1:n.2687+12_2687+13insTG
NM_032034.4:c.2606+12_2606+13insTG	NP_114423.1:n.2606+12_2606+13insTG
NM_001400277.1:c.2501+12_2501+13insTG	NP_001387206.1:n.2501+12_2501+13insTG
NM_001400278.1:c.2501+12_2501+13insTG	NP_001387207.1:n.2501+12_2501+13insTG
NM_001400279.1:c.2501+12_2501+13insTG	NP_001387208.1:n.2501+12_2501+13insTG
NM_001400280.1:c.2573+12_2573+13insTG	NP_001387209.1:n.2573+12_2573+13insTG
NR_174470.1:n.3081+12_3081+13insTG
NR_174471.1:n.3066+12_3066+13insTG