Canonical Allele Identifier: CA2778429264

Gene: SLC4A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151064340_151064341insACCCCCCACCAAACACACCCAAC , CM000669.2:g.151064340_151064341insACCCCCCACCAAACACACCCAAC	GRCh38
NC_000007.13:g.150761427_150761428insACCCCCCACCAAACACACCCAAC , CM000669.1:g.150761427_150761428insACCCCCCACCAAACACACCCAAC	GRCh37
NC_000007.12:g.150392360_150392361insACCCCCCACCAAACACACCCAAC	NCBI36
NG_051947.1:g.11141_11142insACCCCCCACCAAACACACCCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413384.7:c.190_191insACCCCCCACCAAACACACCCAAC MANE Select	ENSP00000405600.2:p.Arg64HisfsTer?
ENST00000677246.1:c.190_191insACCCCCCACCAAACACACCCAAC	ENSP00000504447.1:p.Arg64HisfsTer?
ENST00000310317.9:c.52-265_52-264insACCCCCCACCAAACACACCCAAC	ENSP00000311402.5:n.52-265_52-264insACCCCCCACCAAACACACCCAAC
ENST00000392826.6:c.163_164insACCCCCCACCAAACACACCCAAC	ENSP00000376571.2:p.Arg55HisfsTer?
ENST00000413384.6:c.190_191insACCCCCCACCAAACACACCCAAC	ENSP00000405600.2:p.Arg64HisfsTer?
ENST00000461735.1:c.148_149insACCCCCCACCAAACACACCCAAC	ENSP00000419164.1:p.Arg50HisfsTer?
ENST00000463414.5:c.190_191insACCCCCCACCAAACACACCCAAC	ENSP00000418584.1:p.Arg64HisfsTer?
ENST00000482950.5:c.190_191insACCCCCCACCAAACACACCCAAC	ENSP00000419379.1:p.Arg64HisfsTer?
ENST00000483786.5:c.190_191insACCCCCCACCAAACACACCCAAC	ENSP00000417808.1:p.Arg64HisfsTer?
ENST00000485713.5:c.190_191insACCCCCCACCAAACACACCCAAC	ENSP00000419412.1:p.Arg64HisfsTer?
ENST00000488420.1:c.190_191insACCCCCCACCAAACACACCCAAC	ENSP00000417221.1:p.Arg64HisfsTer?
ENST00000490898.5:c.190_191insACCCCCCACCAAACACACCCAAC	ENSP00000418114.1:p.Arg64HisfsTer?
ENST00000494125.1:n.425_426insACCCCCCACCAAACACACCCAAC
NM_001199692.1:c.190_191insACCCCCCACCAAACACACCCAAC	NP_001186621.1:p.Arg64HisfsTer?
NM_001199693.1:c.163_164insACCCCCCACCAAACACACCCAAC	NP_001186622.1:p.Arg55HisfsTer?
NM_001199694.1:c.148_149insACCCCCCACCAAACACACCCAAC	NP_001186623.1:p.Arg50HisfsTer?
NM_003040.3:c.190_191insACCCCCCACCAAACACACCCAAC	NP_003031.3:p.Arg64HisfsTer?
XM_006716094.2:c.190_191insACCCCCCACCAAACACACCCAAC	XP_006716157.1:p.Arg64HisfsTer?
XM_011516497.1:c.190_191insACCCCCCACCAAACACACCCAAC	XP_011514799.1:p.Arg64HisfsTer?
NM_001199692.2:c.190_191insACCCCCCACCAAACACACCCAAC	NP_001186621.1:p.Arg64HisfsTer?
NM_001199694.2:c.148_149insACCCCCCACCAAACACACCCAAC	NP_001186623.1:p.Arg50HisfsTer?
XM_006716094.3:c.190_191insACCCCCCACCAAACACACCCAAC	XP_006716157.1:p.Arg64HisfsTer?
NM_003040.4:c.190_191insACCCCCCACCAAACACACCCAAC MANE Select	NP_003031.3:p.Arg64HisfsTer?
NM_001199692.3:c.190_191insACCCCCCACCAAACACACCCAAC	NP_001186621.1:p.Arg64HisfsTer?