Canonical Allele Identifier: CA2651691137

Gene: SLC4A11

Linked Data

• gnomAD v4: 20-3228154-ATTCTCCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228155_3228161del , CM000682.2:g.3228155_3228161del	GRCh38
NC_000020.10:g.3208801_3208807del , CM000682.1:g.3208801_3208807del	GRCh37
NC_000020.9:g.3156801_3156807del	NCBI36
NG_017072.1:g.16081_16087del
NG_012093.2:g.24289_24295del

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2558+98_2558+104del MANE Select	ENSP00000493503.1:n.2558+98_2558+104del
ENST00000644011.1:c.2489+98_2489+104del	ENSP00000496214.1:n.2489+98_2489+104del
ENST00000644692.1:c.2357+98_2357+104del	ENSP00000493824.1:n.2357+98_2357+104del
ENST00000647296.1:c.2444+98_2444+104del	ENSP00000495050.1:n.2444+98_2444+104del
ENST00000380056.7:c.2606+98_2606+104del	ENSP00000369396.3:n.2606+98_2606+104del
ENST00000380059.7:c.2687+98_2687+104del	ENSP00000369399.3:n.2687+98_2687+104del
ENST00000474451.5:c.*706+98_*706+104del	ENSP00000476859.1:n.*706+98_*706+104del
ENST00000539553.6:c.2558+98_2558+104del	ENSP00000441370.1:n.2558+98_2558+104del
NM_001174089.1:c.2558+98_2558+104del	NP_001167560.1:n.2558+98_2558+104del
NM_001174090.1:c.2687+98_2687+104del	NP_001167561.1:n.2687+98_2687+104del
NM_032034.3:c.2606+98_2606+104del	NP_114423.1:n.2606+98_2606+104del
XM_005260856.3:c.2927+98_2927+104del	XP_005260913.1:n.2927+98_2927+104del
XM_005260857.1:c.2501+98_2501+104del	XP_005260914.1:n.2501+98_2501+104del
XM_011529383.1:c.2525+98_2525+104del	XP_011527685.1:n.2525+98_2525+104del
XM_011529384.1:c.2501+98_2501+104del	XP_011527686.1:n.2501+98_2501+104del
XM_011529385.1:c.2501+98_2501+104del	XP_011527687.1:n.2501+98_2501+104del
XR_937167.1:n.2656+98_2656+104del
NM_001363745.1:c.2444+98_2444+104del	NP_001350674.1:n.2444+98_2444+104del
NR_135000.1:n.2656+98_2656+104del
XM_005260856.5:c.2927+98_2927+104del	XP_005260913.1:n.2927+98_2927+104del
XM_011529383.3:c.2525+98_2525+104del	XP_011527685.1:n.2525+98_2525+104del
XM_017028093.1:c.2921+98_2921+104del	XP_016883582.1:n.2921+98_2921+104del
XM_017028094.1:c.2501+98_2501+104del	XP_016883583.1:n.2501+98_2501+104del
XM_017028096.1:c.2501+98_2501+104del	XP_016883585.1:n.2501+98_2501+104del
XR_001754419.1:n.3101+98_3101+104del
XR_001754420.2:n.3081+98_3081+104del
NM_001174089.2:c.2558+98_2558+104del MANE Select	NP_001167560.1:n.2558+98_2558+104del
NM_001363745.2:c.2444+98_2444+104del	NP_001350674.1:n.2444+98_2444+104del
NM_001174090.2:c.2687+98_2687+104del	NP_001167561.1:n.2687+98_2687+104del
NM_032034.4:c.2606+98_2606+104del	NP_114423.1:n.2606+98_2606+104del
NM_001400277.1:c.2501+98_2501+104del	NP_001387206.1:n.2501+98_2501+104del
NM_001400278.1:c.2501+98_2501+104del	NP_001387207.1:n.2501+98_2501+104del
NM_001400279.1:c.2501+98_2501+104del	NP_001387208.1:n.2501+98_2501+104del
NM_001400280.1:c.2573+98_2573+104del	NP_001387209.1:n.2573+98_2573+104del
NR_174470.1:n.3081+98_3081+104del
NR_174471.1:n.3066+98_3066+104del