Canonical Allele Identifier: CA1108709421
Gene: SLC4A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151064381_151064382insCGGGGGGGGGGGGG , CM000669.2:g.151064381_151064382insCGGGGGGGGGGGGG GRCh38
NC_000007.13:g.150761468_150761469insCGGGGGGGGGGGGG , CM000669.1:g.150761468_150761469insCGGGGGGGGGGGGG GRCh37
NC_000007.12:g.150392401_150392402insCGGGGGGGGGGGGG NCBI36
NG_051947.1:g.11182_11183insCGGGGGGGGGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000413384.7:c.217+14_217+15insCGGGGGGGGGGGGG MANE Select ENSP00000405600.2:n.217+14_217+15insCGGGGGGGGGGGGG
ENST00000677246.1:c.217+14_217+15insCGGGGGGGGGGGGG ENSP00000504447.1:n.217+14_217+15insCGGGGGGGGGGGGG
ENST00000310317.9:c.52-224_52-223insCGGGGGGGGGGGGG ENSP00000311402.5:n.52-224_52-223insCGGGGGGGGGGGGG
ENST00000392826.6:c.190+14_190+15insCGGGGGGGGGGGGG ENSP00000376571.2:n.190+14_190+15insCGGGGGGGGGGGGG
ENST00000413384.6:c.217+14_217+15insCGGGGGGGGGGGGG ENSP00000405600.2:n.217+14_217+15insCGGGGGGGGGGGGG
ENST00000461735.1:c.175+14_175+15insCGGGGGGGGGGGGG ENSP00000419164.1:n.175+14_175+15insCGGGGGGGGGGGGG
ENST00000463414.5:c.217+14_217+15insCGGGGGGGGGGGGG ENSP00000418584.1:n.217+14_217+15insCGGGGGGGGGGGGG
ENST00000482950.5:c.217+14_217+15insCGGGGGGGGGGGGG ENSP00000419379.1:n.217+14_217+15insCGGGGGGGGGGGGG
ENST00000483786.5:c.217+14_217+15insCGGGGGGGGGGGGG ENSP00000417808.1:n.217+14_217+15insCGGGGGGGGGGGGG
ENST00000485713.5:c.217+14_217+15insCGGGGGGGGGGGGG ENSP00000419412.1:n.217+14_217+15insCGGGGGGGGGGGGG
ENST00000490898.5:c.217+14_217+15insCGGGGGGGGGGGGG ENSP00000418114.1:n.217+14_217+15insCGGGGGGGGGGGGG
ENST00000494125.1:n.466_467insCGGGGGGGGGGGGG
NM_001199692.1:c.217+14_217+15insCGGGGGGGGGGGGG NP_001186621.1:n.217+14_217+15insCGGGGGGGGGGGGG
NM_001199693.1:c.190+14_190+15insCGGGGGGGGGGGGG NP_001186622.1:n.190+14_190+15insCGGGGGGGGGGGGG
NM_001199694.1:c.175+14_175+15insCGGGGGGGGGGGGG NP_001186623.1:n.175+14_175+15insCGGGGGGGGGGGGG
NM_003040.3:c.217+14_217+15insCGGGGGGGGGGGGG NP_003031.3:n.217+14_217+15insCGGGGGGGGGGGGG
XM_006716094.2:c.217+14_217+15insCGGGGGGGGGGGGG XP_006716157.1:n.217+14_217+15insCGGGGGGGGGGGGG
XM_011516497.1:c.217+14_217+15insCGGGGGGGGGGGGG XP_011514799.1:n.217+14_217+15insCGGGGGGGGGGGGG
NM_001199692.2:c.217+14_217+15insCGGGGGGGGGGGGG NP_001186621.1:n.217+14_217+15insCGGGGGGGGGGGGG
NM_001199694.2:c.175+14_175+15insCGGGGGGGGGGGGG NP_001186623.1:n.175+14_175+15insCGGGGGGGGGGGGG
XM_006716094.3:c.217+14_217+15insCGGGGGGGGGGGGG XP_006716157.1:n.217+14_217+15insCGGGGGGGGGGGGG
NM_003040.4:c.217+14_217+15insCGGGGGGGGGGGGG MANE Select NP_003031.3:n.217+14_217+15insCGGGGGGGGGGGGG
NM_001199692.3:c.217+14_217+15insCGGGGGGGGGGGGG NP_001186621.1:n.217+14_217+15insCGGGGGGGGGGGGG