Canonical Allele Identifier: CA2651690968

Gene: SLC4A11

Linked Data

• gnomAD v4: 20-3228134-G-GCCGCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228135_3228136insCGCCCCCCCCCC , CM000682.2:g.3228135_3228136insCGCCCCCCCCCC	GRCh38
NC_000020.10:g.3208781_3208782insCGCCCCCCCCCC , CM000682.1:g.3208781_3208782insCGCCCCCCCCCC	GRCh37
NC_000020.9:g.3156781_3156782insCGCCCCCCCCCC	NCBI36
NG_017072.1:g.16107_16108insGGGGGGGGGCGG
NG_012093.2:g.24269_24270insCGCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642402.1:c.2558+124_2558+125insGGGGGGGGGCGG MANE Select	ENSP00000493503.1:n.2558+124_2558+125insGGGGGGGGGCGG
ENST00000644011.1:c.2489+124_2489+125insGGGGGGGGGCGG	ENSP00000496214.1:n.2489+124_2489+125insGGGGGGGGGCGG
ENST00000644692.1:c.2357+124_2357+125insGGGGGGGGGCGG	ENSP00000493824.1:n.2357+124_2357+125insGGGGGGGGGCGG
ENST00000647296.1:c.2444+124_2444+125insGGGGGGGGGCGG	ENSP00000495050.1:n.2444+124_2444+125insGGGGGGGGGCGG
ENST00000380056.7:c.2606+124_2606+125insGGGGGGGGGCGG	ENSP00000369396.3:n.2606+124_2606+125insGGGGGGGGGCGG
ENST00000380059.7:c.2687+124_2687+125insGGGGGGGGGCGG	ENSP00000369399.3:n.2687+124_2687+125insGGGGGGGGGCGG
ENST00000474451.5:c.*706+124_*706+125insGGGGGGGGGCGG	ENSP00000476859.1:n.*706+124_*706+125insGGGGGGGGGCGG
ENST00000539553.6:c.2558+124_2558+125insGGGGGGGGGCGG	ENSP00000441370.1:n.2558+124_2558+125insGGGGGGGGGCGG
NM_001174089.1:c.2558+124_2558+125insGGGGGGGGGCGG	NP_001167560.1:n.2558+124_2558+125insGGGGGGGGGCGG
NM_001174090.1:c.2687+124_2687+125insGGGGGGGGGCGG	NP_001167561.1:n.2687+124_2687+125insGGGGGGGGGCGG
NM_032034.3:c.2606+124_2606+125insGGGGGGGGGCGG	NP_114423.1:n.2606+124_2606+125insGGGGGGGGGCGG
XM_005260856.3:c.2927+124_2927+125insGGGGGGGGGCGG	XP_005260913.1:n.2927+124_2927+125insGGGGGGGGGCGG
XM_005260857.1:c.2501+124_2501+125insGGGGGGGGGCGG	XP_005260914.1:n.2501+124_2501+125insGGGGGGGGGCGG
XM_011529383.1:c.2525+124_2525+125insGGGGGGGGGCGG	XP_011527685.1:n.2525+124_2525+125insGGGGGGGGGCGG
XM_011529384.1:c.2501+124_2501+125insGGGGGGGGGCGG	XP_011527686.1:n.2501+124_2501+125insGGGGGGGGGCGG
XM_011529385.1:c.2501+124_2501+125insGGGGGGGGGCGG	XP_011527687.1:n.2501+124_2501+125insGGGGGGGGGCGG
XR_937167.1:n.2656+124_2656+125insGGGGGGGGGCGG
NM_001363745.1:c.2444+124_2444+125insGGGGGGGGGCGG	NP_001350674.1:n.2444+124_2444+125insGGGGGGGGGCGG
NR_135000.1:n.2656+124_2656+125insGGGGGGGGGCGG
XM_005260856.5:c.2927+124_2927+125insGGGGGGGGGCGG	XP_005260913.1:n.2927+124_2927+125insGGGGGGGGGCGG
XM_011529383.3:c.2525+124_2525+125insGGGGGGGGGCGG	XP_011527685.1:n.2525+124_2525+125insGGGGGGGGGCGG
XM_017028093.1:c.2921+124_2921+125insGGGGGGGGGCGG	XP_016883582.1:n.2921+124_2921+125insGGGGGGGGGCGG
XM_017028094.1:c.2501+124_2501+125insGGGGGGGGGCGG	XP_016883583.1:n.2501+124_2501+125insGGGGGGGGGCGG
XM_017028096.1:c.2501+124_2501+125insGGGGGGGGGCGG	XP_016883585.1:n.2501+124_2501+125insGGGGGGGGGCGG
XR_001754419.1:n.3101+124_3101+125insGGGGGGGGGCGG
XR_001754420.2:n.3081+124_3081+125insGGGGGGGGGCGG
NM_001174089.2:c.2558+124_2558+125insGGGGGGGGGCGG MANE Select	NP_001167560.1:n.2558+124_2558+125insGGGGGGGGGCGG
NM_001363745.2:c.2444+124_2444+125insGGGGGGGGGCGG	NP_001350674.1:n.2444+124_2444+125insGGGGGGGGGCGG
NM_001174090.2:c.2687+124_2687+125insGGGGGGGGGCGG	NP_001167561.1:n.2687+124_2687+125insGGGGGGGGGCGG
NM_032034.4:c.2606+124_2606+125insGGGGGGGGGCGG	NP_114423.1:n.2606+124_2606+125insGGGGGGGGGCGG
NM_001400277.1:c.2501+124_2501+125insGGGGGGGGGCGG	NP_001387206.1:n.2501+124_2501+125insGGGGGGGGGCGG
NM_001400278.1:c.2501+124_2501+125insGGGGGGGGGCGG	NP_001387207.1:n.2501+124_2501+125insGGGGGGGGGCGG
NM_001400279.1:c.2501+124_2501+125insGGGGGGGGGCGG	NP_001387208.1:n.2501+124_2501+125insGGGGGGGGGCGG
NM_001400280.1:c.2573+124_2573+125insGGGGGGGGGCGG	NP_001387209.1:n.2573+124_2573+125insGGGGGGGGGCGG
NR_174470.1:n.3081+124_3081+125insGGGGGGGGGCGG
NR_174471.1:n.3066+124_3066+125insGGGGGGGGGCGG