Canonical Allele Identifier: CA913185034

Gene: SLC4A11

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3237583_3237584del , CM000682.2:g.3237583_3237584del	GRCh38
NC_000020.10:g.3218229_3218230del , CM000682.1:g.3218229_3218230del	GRCh37
NC_000020.9:g.3166229_3166230del	NCBI36
NG_017072.1:g.6661_6662del

Transcript Alleles

HGVS	Amino-acid Change
NM_001174089.2:c.51_52del MANE Select	NP_001167560.1:p.Pro18HisfsTer17
ENST00000642402.1:c.51_52del MANE Select	ENSP00000493503.1:p.Pro18HisfsTer17
NM_001174089.1:c.51_52del	NP_001167560.1:p.Pro18HisfsTer17
NM_001174090.1:c.180_181del	NP_001167561.1:p.Pro61HisfsTer17
NM_001174090.2:c.180_181del	NP_001167561.1:p.Pro61HisfsTer17
NM_001363745.1:c.51_52del	NP_001350674.1:p.Pro18HisfsTer17
NM_001363745.2:c.51_52del	NP_001350674.1:p.Pro18HisfsTer17
NM_001400277.1:c.-7_-6del	NP_001387206.1:n.-7_-6del
NM_001400278.1:c.-7_-6del	NP_001387207.1:n.-7_-6del
NM_001400279.1:c.-7_-6del	NP_001387208.1:n.-7_-6del
NM_001400280.1:c.180_181del	NP_001387209.1:p.Pro61HisfsTer17
NM_032034.3:c.99_100del	NP_114423.1:p.Pro34HisfsTer17
NM_032034.4:c.99_100del	NP_114423.1:p.Pro34HisfsTer17
NR_135000.1:n.219_220del
NR_174470.1:n.609_610del
NR_174471.1:n.609_610del
ENST00000380056.7:c.99_100del	ENSP00000369396.3:p.Pro34HisfsTer17
ENST00000380059.7:c.180_181del	ENSP00000369399.3:p.Pro61HisfsTer17
ENST00000437836.2:c.-7_-6del	ENSP00000404271.2:n.-7_-6del
ENST00000474451.5:c.-7_-6del	ENSP00000476859.1:n.-7_-6del
ENST00000539553.6:c.51_52del	ENSP00000441370.1:p.Pro18HisfsTer17
ENST00000644011.1:c.51_52del	ENSP00000496214.1:p.Pro18HisfsTer17
ENST00000644692.1:c.-7_-6del	ENSP00000493824.1:n.-7_-6del
ENST00000644862.1:c.-7_-6del	ENSP00000495559.1:n.-7_-6del
ENST00000645524.1:c.180_181del	ENSP00000495635.1:p.Pro61HisfsTer?
ENST00000647296.1:c.51_52del	ENSP00000495050.1:p.Pro18HisfsTer17
XM_005260856.3:c.534_535del	XP_005260913.1:p.Pro179HisfsTer17
XM_005260856.5:c.534_535del	XP_005260913.1:p.Pro179HisfsTer17
XM_005260857.1:c.-7_-6del	XP_005260914.1:n.-7_-6del
XM_011529383.1:c.18_19del	XP_011527685.1:p.Pro7HisfsTer17
XM_011529383.3:c.18_19del	XP_011527685.1:p.Pro7HisfsTer17
XM_011529384.1:c.-7_-6del	XP_011527686.1:n.-7_-6del
XM_011529385.1:c.-7_-6del	XP_011527687.1:n.-7_-6del
XM_011529386.1:c.534_535del	XP_011527688.1:p.Pro179HisfsTer17
XM_017028093.1:c.534_535del	XP_016883582.1:p.Pro179HisfsTer17
XM_017028094.1:c.-7_-6del	XP_016883583.1:n.-7_-6del
XM_017028096.1:c.-7_-6del	XP_016883585.1:n.-7_-6del
XM_017028097.1:c.534_535del	XP_016883586.1:p.Pro179HisfsTer17
XR_001754419.1:n.644_645del
XR_001754420.2:n.644_645del
XR_937167.1:n.219_220del