Canonical Allele Identifier: CA2651691014

Gene: SLC4A11

Linked Data

• gnomAD v4: 20-3228136-A-ACCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228139_3228140insCCCCCCC , CM000682.2:g.3228139_3228140insCCCCCCC	GRCh38
NC_000020.10:g.3208785_3208786insCCCCCCC , CM000682.1:g.3208785_3208786insCCCCCCC	GRCh37
NC_000020.9:g.3156785_3156786insCCCCCCC	NCBI36
NG_017072.1:g.16105_16106insGGGGGGG
NG_012093.2:g.24273_24274insCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642402.1:c.2558+122_2558+123insGGGGGGG MANE Select	ENSP00000493503.1:n.2558+122_2558+123insGGGGGGG
ENST00000644011.1:c.2489+122_2489+123insGGGGGGG	ENSP00000496214.1:n.2489+122_2489+123insGGGGGGG
ENST00000644692.1:c.2357+122_2357+123insGGGGGGG	ENSP00000493824.1:n.2357+122_2357+123insGGGGGGG
ENST00000647296.1:c.2444+122_2444+123insGGGGGGG	ENSP00000495050.1:n.2444+122_2444+123insGGGGGGG
ENST00000380056.7:c.2606+122_2606+123insGGGGGGG	ENSP00000369396.3:n.2606+122_2606+123insGGGGGGG
ENST00000380059.7:c.2687+122_2687+123insGGGGGGG	ENSP00000369399.3:n.2687+122_2687+123insGGGGGGG
ENST00000474451.5:c.*706+122_*706+123insGGGGGGG	ENSP00000476859.1:n.*706+122_*706+123insGGGGGGG
ENST00000539553.6:c.2558+122_2558+123insGGGGGGG	ENSP00000441370.1:n.2558+122_2558+123insGGGGGGG
NM_001174089.1:c.2558+122_2558+123insGGGGGGG	NP_001167560.1:n.2558+122_2558+123insGGGGGGG
NM_001174090.1:c.2687+122_2687+123insGGGGGGG	NP_001167561.1:n.2687+122_2687+123insGGGGGGG
NM_032034.3:c.2606+122_2606+123insGGGGGGG	NP_114423.1:n.2606+122_2606+123insGGGGGGG
XM_005260856.3:c.2927+122_2927+123insGGGGGGG	XP_005260913.1:n.2927+122_2927+123insGGGGGGG
XM_005260857.1:c.2501+122_2501+123insGGGGGGG	XP_005260914.1:n.2501+122_2501+123insGGGGGGG
XM_011529383.1:c.2525+122_2525+123insGGGGGGG	XP_011527685.1:n.2525+122_2525+123insGGGGGGG
XM_011529384.1:c.2501+122_2501+123insGGGGGGG	XP_011527686.1:n.2501+122_2501+123insGGGGGGG
XM_011529385.1:c.2501+122_2501+123insGGGGGGG	XP_011527687.1:n.2501+122_2501+123insGGGGGGG
XR_937167.1:n.2656+122_2656+123insGGGGGGG
NM_001363745.1:c.2444+122_2444+123insGGGGGGG	NP_001350674.1:n.2444+122_2444+123insGGGGGGG
NR_135000.1:n.2656+122_2656+123insGGGGGGG
XM_005260856.5:c.2927+122_2927+123insGGGGGGG	XP_005260913.1:n.2927+122_2927+123insGGGGGGG
XM_011529383.3:c.2525+122_2525+123insGGGGGGG	XP_011527685.1:n.2525+122_2525+123insGGGGGGG
XM_017028093.1:c.2921+122_2921+123insGGGGGGG	XP_016883582.1:n.2921+122_2921+123insGGGGGGG
XM_017028094.1:c.2501+122_2501+123insGGGGGGG	XP_016883583.1:n.2501+122_2501+123insGGGGGGG
XM_017028096.1:c.2501+122_2501+123insGGGGGGG	XP_016883585.1:n.2501+122_2501+123insGGGGGGG
XR_001754419.1:n.3101+122_3101+123insGGGGGGG
XR_001754420.2:n.3081+122_3081+123insGGGGGGG
NM_001174089.2:c.2558+122_2558+123insGGGGGGG MANE Select	NP_001167560.1:n.2558+122_2558+123insGGGGGGG
NM_001363745.2:c.2444+122_2444+123insGGGGGGG	NP_001350674.1:n.2444+122_2444+123insGGGGGGG
NM_001174090.2:c.2687+122_2687+123insGGGGGGG	NP_001167561.1:n.2687+122_2687+123insGGGGGGG
NM_032034.4:c.2606+122_2606+123insGGGGGGG	NP_114423.1:n.2606+122_2606+123insGGGGGGG
NM_001400277.1:c.2501+122_2501+123insGGGGGGG	NP_001387206.1:n.2501+122_2501+123insGGGGGGG
NM_001400278.1:c.2501+122_2501+123insGGGGGGG	NP_001387207.1:n.2501+122_2501+123insGGGGGGG
NM_001400279.1:c.2501+122_2501+123insGGGGGGG	NP_001387208.1:n.2501+122_2501+123insGGGGGGG
NM_001400280.1:c.2573+122_2573+123insGGGGGGG	NP_001387209.1:n.2573+122_2573+123insGGGGGGG
NR_174470.1:n.3081+122_3081+123insGGGGGGG
NR_174471.1:n.3066+122_3066+123insGGGGGGG