Canonical Allele Identifier: CA2579064979

Gene: SLC4A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151064248del , CM000669.2:g.151064248del	GRCh38
NC_000007.13:g.150761335del , CM000669.1:g.150761335del	GRCh37
NC_000007.12:g.150392268del	NCBI36
NG_051947.1:g.11049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413384.7:c.98del MANE Select	ENSP00000405600.2:p.Gln33ArgfsTer?
ENST00000677246.1:c.98del	ENSP00000504447.1:p.Gln33ArgfsTer?
ENST00000310317.9:c.52-357del	ENSP00000311402.5:n.52-357del
ENST00000392826.6:c.71del	ENSP00000376571.2:p.Gln24ArgfsTer?
ENST00000413384.6:c.98del	ENSP00000405600.2:p.Gln33ArgfsTer?
ENST00000461735.1:c.56del	ENSP00000419164.1:p.Gln19ArgfsTer?
ENST00000463414.5:c.98del	ENSP00000418584.1:p.Gln33ArgfsTer?
ENST00000482950.5:c.98del	ENSP00000419379.1:p.Gln33ArgfsTer?
ENST00000483786.5:c.98del	ENSP00000417808.1:p.Gln33ArgfsTer?
ENST00000485713.5:c.98del	ENSP00000419412.1:p.Gln33ArgfsTer?
ENST00000488420.1:c.98del	ENSP00000417221.1:p.Gln33ArgfsTer?
ENST00000490898.5:c.98del	ENSP00000418114.1:p.Gln33ArgfsTer?
ENST00000494125.1:n.333del
NM_001199692.1:c.98del	NP_001186621.1:p.Gln33ArgfsTer?
NM_001199693.1:c.71del	NP_001186622.1:p.Gln24ArgfsTer?
NM_001199694.1:c.56del	NP_001186623.1:p.Gln19ArgfsTer?
NM_003040.3:c.98del	NP_003031.3:p.Gln33ArgfsTer?
XM_006716094.2:c.98del	XP_006716157.1:p.Gln33ArgfsTer?
XM_011516497.1:c.98del	XP_011514799.1:p.Gln33ArgfsTer?
NM_001199692.2:c.98del	NP_001186621.1:p.Gln33ArgfsTer?
NM_001199694.2:c.56del	NP_001186623.1:p.Gln19ArgfsTer?
XM_006716094.3:c.98del	XP_006716157.1:p.Gln33ArgfsTer?
NM_003040.4:c.98del MANE Select	NP_003031.3:p.Gln33ArgfsTer?
NM_001199692.3:c.98del	NP_001186621.1:p.Gln33ArgfsTer?