Canonical Allele Identifier: CA2651691038

Gene: SLC4A11

Linked Data

• gnomAD v4: 20-3228143-C-CCCCCCCCCCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228144_3228145insCCCCCCCCCCCAC , CM000682.2:g.3228144_3228145insCCCCCCCCCCCAC	GRCh38
NC_000020.10:g.3208790_3208791insCCCCCCCCCCCAC , CM000682.1:g.3208790_3208791insCCCCCCCCCCCAC	GRCh37
NC_000020.9:g.3156790_3156791insCCCCCCCCCCCAC	NCBI36
NG_017072.1:g.16098_16099insTGGGGGGGGGGGG
NG_012093.2:g.24278_24279insCCCCCCCCCCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642402.1:c.2558+115_2558+116insTGGGGGGGGGGGG MANE Select	ENSP00000493503.1:n.2558+115_2558+116insTGGGGGGGGGGGG
ENST00000644011.1:c.2489+115_2489+116insTGGGGGGGGGGGG	ENSP00000496214.1:n.2489+115_2489+116insTGGGGGGGGGGGG
ENST00000644692.1:c.2357+115_2357+116insTGGGGGGGGGGGG	ENSP00000493824.1:n.2357+115_2357+116insTGGGGGGGGGGGG
ENST00000647296.1:c.2444+115_2444+116insTGGGGGGGGGGGG	ENSP00000495050.1:n.2444+115_2444+116insTGGGGGGGGGGGG
ENST00000380056.7:c.2606+115_2606+116insTGGGGGGGGGGGG	ENSP00000369396.3:n.2606+115_2606+116insTGGGGGGGGGGGG
ENST00000380059.7:c.2687+115_2687+116insTGGGGGGGGGGGG	ENSP00000369399.3:n.2687+115_2687+116insTGGGGGGGGGGGG
ENST00000474451.5:c.*706+115_*706+116insTGGGGGGGGGGGG	ENSP00000476859.1:n.*706+115_*706+116insTGGGGGGGGGGGG
ENST00000539553.6:c.2558+115_2558+116insTGGGGGGGGGGGG	ENSP00000441370.1:n.2558+115_2558+116insTGGGGGGGGGGGG
NM_001174089.1:c.2558+115_2558+116insTGGGGGGGGGGGG	NP_001167560.1:n.2558+115_2558+116insTGGGGGGGGGGGG
NM_001174090.1:c.2687+115_2687+116insTGGGGGGGGGGGG	NP_001167561.1:n.2687+115_2687+116insTGGGGGGGGGGGG
NM_032034.3:c.2606+115_2606+116insTGGGGGGGGGGGG	NP_114423.1:n.2606+115_2606+116insTGGGGGGGGGGGG
XM_005260856.3:c.2927+115_2927+116insTGGGGGGGGGGGG	XP_005260913.1:n.2927+115_2927+116insTGGGGGGGGGGGG
XM_005260857.1:c.2501+115_2501+116insTGGGGGGGGGGGG	XP_005260914.1:n.2501+115_2501+116insTGGGGGGGGGGGG
XM_011529383.1:c.2525+115_2525+116insTGGGGGGGGGGGG	XP_011527685.1:n.2525+115_2525+116insTGGGGGGGGGGGG
XM_011529384.1:c.2501+115_2501+116insTGGGGGGGGGGGG	XP_011527686.1:n.2501+115_2501+116insTGGGGGGGGGGGG
XM_011529385.1:c.2501+115_2501+116insTGGGGGGGGGGGG	XP_011527687.1:n.2501+115_2501+116insTGGGGGGGGGGGG
XR_937167.1:n.2656+115_2656+116insTGGGGGGGGGGGG
NM_001363745.1:c.2444+115_2444+116insTGGGGGGGGGGGG	NP_001350674.1:n.2444+115_2444+116insTGGGGGGGGGGGG
NR_135000.1:n.2656+115_2656+116insTGGGGGGGGGGGG
XM_005260856.5:c.2927+115_2927+116insTGGGGGGGGGGGG	XP_005260913.1:n.2927+115_2927+116insTGGGGGGGGGGGG
XM_011529383.3:c.2525+115_2525+116insTGGGGGGGGGGGG	XP_011527685.1:n.2525+115_2525+116insTGGGGGGGGGGGG
XM_017028093.1:c.2921+115_2921+116insTGGGGGGGGGGGG	XP_016883582.1:n.2921+115_2921+116insTGGGGGGGGGGGG
XM_017028094.1:c.2501+115_2501+116insTGGGGGGGGGGGG	XP_016883583.1:n.2501+115_2501+116insTGGGGGGGGGGGG
XM_017028096.1:c.2501+115_2501+116insTGGGGGGGGGGGG	XP_016883585.1:n.2501+115_2501+116insTGGGGGGGGGGGG
XR_001754419.1:n.3101+115_3101+116insTGGGGGGGGGGGG
XR_001754420.2:n.3081+115_3081+116insTGGGGGGGGGGGG
NM_001174089.2:c.2558+115_2558+116insTGGGGGGGGGGGG MANE Select	NP_001167560.1:n.2558+115_2558+116insTGGGGGGGGGGGG
NM_001363745.2:c.2444+115_2444+116insTGGGGGGGGGGGG	NP_001350674.1:n.2444+115_2444+116insTGGGGGGGGGGGG
NM_001174090.2:c.2687+115_2687+116insTGGGGGGGGGGGG	NP_001167561.1:n.2687+115_2687+116insTGGGGGGGGGGGG
NM_032034.4:c.2606+115_2606+116insTGGGGGGGGGGGG	NP_114423.1:n.2606+115_2606+116insTGGGGGGGGGGGG
NM_001400277.1:c.2501+115_2501+116insTGGGGGGGGGGGG	NP_001387206.1:n.2501+115_2501+116insTGGGGGGGGGGGG
NM_001400278.1:c.2501+115_2501+116insTGGGGGGGGGGGG	NP_001387207.1:n.2501+115_2501+116insTGGGGGGGGGGGG
NM_001400279.1:c.2501+115_2501+116insTGGGGGGGGGGGG	NP_001387208.1:n.2501+115_2501+116insTGGGGGGGGGGGG
NM_001400280.1:c.2573+115_2573+116insTGGGGGGGGGGGG	NP_001387209.1:n.2573+115_2573+116insTGGGGGGGGGGGG
NR_174470.1:n.3081+115_3081+116insTGGGGGGGGGGGG
NR_174471.1:n.3066+115_3066+116insTGGGGGGGGGGGG