Canonical Allele Identifier: CA1752500378

Gene: SLC4A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151064393_151064394delinsAG , CM000669.2:g.151064393_151064394delinsAG	GRCh38
NC_000007.13:g.150761480_150761481delinsAG , CM000669.1:g.150761480_150761481delinsAG	GRCh37
NC_000007.12:g.150392413_150392414delinsAG	NCBI36
NG_051947.1:g.11194_11195delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413384.7:c.217+26_217+27delinsAG MANE Select	ENSP00000405600.2:n.217+26_217+27delinsAG
ENST00000677246.1:c.217+26_217+27delinsAG	ENSP00000504447.1:n.217+26_217+27delinsAG
ENST00000310317.9:c.52-212_52-211delinsAG	ENSP00000311402.5:n.52-212_52-211delinsAG
ENST00000392826.6:c.190+26_190+27delinsAG	ENSP00000376571.2:n.190+26_190+27delinsAG
ENST00000413384.6:c.217+26_217+27delinsAG	ENSP00000405600.2:n.217+26_217+27delinsAG
ENST00000461735.1:c.175+26_175+27delinsAG	ENSP00000419164.1:n.175+26_175+27delinsAG
ENST00000463414.5:c.217+26_217+27delinsAG	ENSP00000418584.1:n.217+26_217+27delinsAG
ENST00000482950.5:c.217+26_217+27delinsAG	ENSP00000419379.1:n.217+26_217+27delinsAG
ENST00000483786.5:c.217+26_217+27delinsAG	ENSP00000417808.1:n.217+26_217+27delinsAG
ENST00000485713.5:c.217+26_217+27delinsAG	ENSP00000419412.1:n.217+26_217+27delinsAG
ENST00000490898.5:c.217+26_217+27delinsAG	ENSP00000418114.1:n.217+26_217+27delinsAG
ENST00000494125.1:n.478_479delinsAG
NM_001199692.1:c.217+26_217+27delinsAG	NP_001186621.1:n.217+26_217+27delinsAG
NM_001199693.1:c.190+26_190+27delinsAG	NP_001186622.1:n.190+26_190+27delinsAG
NM_001199694.1:c.175+26_175+27delinsAG	NP_001186623.1:n.175+26_175+27delinsAG
NM_003040.3:c.217+26_217+27delinsAG	NP_003031.3:n.217+26_217+27delinsAG
XM_006716094.2:c.217+26_217+27delinsAG	XP_006716157.1:n.217+26_217+27delinsAG
XM_011516497.1:c.217+26_217+27delinsAG	XP_011514799.1:n.217+26_217+27delinsAG
NM_001199692.2:c.217+26_217+27delinsAG	NP_001186621.1:n.217+26_217+27delinsAG
NM_001199694.2:c.175+26_175+27delinsAG	NP_001186623.1:n.175+26_175+27delinsAG
XM_006716094.3:c.217+26_217+27delinsAG	XP_006716157.1:n.217+26_217+27delinsAG
NM_003040.4:c.217+26_217+27delinsAG MANE Select	NP_003031.3:n.217+26_217+27delinsAG
NM_001199692.3:c.217+26_217+27delinsAG	NP_001186621.1:n.217+26_217+27delinsAG