Canonical Allele Identifier: CA2580614987

Gene: SLC4A11

Linked Data

• ClinVar Variation Id: 1072511
• ClinVar RCV Id: RCV001385244
• dbSNP Id: rs869320721
• gnomAD v4: 20-3234173-T-TGGCGAAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3234182_3234189dup , CM000682.2:g.3234182_3234189dup	GRCh38
NC_000020.10:g.3214828_3214835dup , CM000682.1:g.3214828_3214835dup	GRCh37
NC_000020.9:g.3162828_3162835dup	NCBI36
NG_017072.1:g.10061_10068dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.425_432dup MANE Select	ENSP00000493503.1:p.Arg145AlafsTer?
ENST00000644011.1:c.356_363dup	ENSP00000496214.1:p.Arg122AlafsTer?
ENST00000644692.1:c.368_375dup	ENSP00000493824.1:p.Arg126AlafsTer?
ENST00000647296.1:c.425_432dup	ENSP00000495050.1:p.Arg145AlafsTer?
ENST00000380056.7:c.473_480dup	ENSP00000369396.3:p.Arg161AlafsTer?
ENST00000380059.7:c.554_561dup	ENSP00000369399.3:p.Arg188AlafsTer?
ENST00000474451.5:c.368_375dup	ENSP00000476859.1:p.Arg126AlafsTer?
ENST00000539553.6:c.425_432dup	ENSP00000441370.1:p.Arg145AlafsTer?
NM_001174089.1:c.425_432dup	NP_001167560.1:p.Arg145AlafsTer?
NM_001174090.1:c.554_561dup	NP_001167561.1:p.Arg188AlafsTer?
NM_032034.3:c.473_480dup	NP_114423.1:p.Arg161AlafsTer?
XM_005260856.3:c.908_915dup	XP_005260913.1:p.Arg306AlafsTer?
XM_005260857.1:c.368_375dup	XP_005260914.1:p.Arg126AlafsTer?
XM_011529383.1:c.392_399dup	XP_011527685.1:p.Arg134AlafsTer?
XM_011529384.1:c.368_375dup	XP_011527686.1:p.Arg126AlafsTer?
XM_011529385.1:c.368_375dup	XP_011527687.1:p.Arg126AlafsTer?
XM_011529386.1:c.908_915dup	XP_011527688.1:p.Arg306AlafsTer?
XR_937167.1:n.593_600dup
NM_001363745.1:c.425_432dup	NP_001350674.1:p.Arg145AlafsTer?
NR_135000.1:n.593_600dup
XM_005260856.5:c.908_915dup	XP_005260913.1:p.Arg306AlafsTer?
XM_011529383.3:c.392_399dup	XP_011527685.1:p.Arg134AlafsTer?
XM_017028093.1:c.908_915dup	XP_016883582.1:p.Arg306AlafsTer?
XM_017028094.1:c.368_375dup	XP_016883583.1:p.Arg126AlafsTer?
XM_017028096.1:c.368_375dup	XP_016883585.1:p.Arg126AlafsTer?
XM_017028097.1:c.908_915dup	XP_016883586.1:p.Arg306AlafsTer?
XR_001754419.1:n.1018_1025dup
XR_001754420.2:n.1018_1025dup
NM_001174089.2:c.425_432dup MANE Select	NP_001167560.1:p.Arg145AlafsTer?
NM_001363745.2:c.425_432dup	NP_001350674.1:p.Arg145AlafsTer?
NM_001174090.2:c.554_561dup	NP_001167561.1:p.Arg188AlafsTer?
NM_032034.4:c.473_480dup	NP_114423.1:p.Arg161AlafsTer?
NM_001400277.1:c.368_375dup	NP_001387206.1:p.Arg126AlafsTer?
NM_001400278.1:c.368_375dup	NP_001387207.1:p.Arg126AlafsTer?
NM_001400279.1:c.368_375dup	NP_001387208.1:p.Arg126AlafsTer?
NM_001400280.1:c.554_561dup	NP_001387209.1:p.Arg188AlafsTer?
NR_174470.1:n.983_990dup
NR_174471.1:n.983_990dup