Canonical Allele Identifier: CA2685635450

Gene: SLC4A2

Linked Data

• gnomAD v4: 7-151064370-GAGGGGGCAGGCAGGGGAGGGGGAGGTGGGGGGATCAGGTTTGACTGTCCAGCAAAGAAGGGACTGGGGTCCTAGTGGGAGGAGTGGGGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151064381_151064470del , CM000669.2:g.151064381_151064470del	GRCh38
NC_000007.13:g.150761468_150761557del , CM000669.1:g.150761468_150761557del	GRCh37
NC_000007.12:g.150392401_150392490del	NCBI36
NG_051947.1:g.11182_11271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413384.7:c.217+14_218-56del MANE Select	ENSP00000405600.2:n.217+14_218-56del
ENST00000677246.1:c.217+14_218-56del	ENSP00000504447.1:n.217+14_218-56del
ENST00000310317.9:c.52-224_52-135del	ENSP00000311402.5:n.52-224_52-135del
ENST00000392826.6:c.190+14_191-56del	ENSP00000376571.2:n.190+14_191-56del
ENST00000413384.6:c.217+14_218-56del	ENSP00000405600.2:n.217+14_218-56del
ENST00000461735.1:c.175+14_176-56del	ENSP00000419164.1:n.175+14_176-56del
ENST00000463414.5:c.217+14_218-56del	ENSP00000418584.1:n.217+14_218-56del
ENST00000482950.5:c.217+14_218-56del	ENSP00000419379.1:n.217+14_218-56del
ENST00000483786.5:c.217+14_218-56del	ENSP00000417808.1:n.217+14_218-56del
ENST00000485713.5:c.217+14_218-56del	ENSP00000419412.1:n.217+14_218-56del
ENST00000490898.5:c.217+14_218-56del	ENSP00000418114.1:n.217+14_218-56del
ENST00000494125.1:n.466_555del
NM_001199692.1:c.217+14_218-56del	NP_001186621.1:n.217+14_218-56del
NM_001199693.1:c.190+14_191-56del	NP_001186622.1:n.190+14_191-56del
NM_001199694.1:c.175+14_176-56del	NP_001186623.1:n.175+14_176-56del
NM_003040.3:c.217+14_218-56del	NP_003031.3:n.217+14_218-56del
XM_006716094.2:c.217+14_218-56del	XP_006716157.1:n.217+14_218-56del
XM_011516497.1:c.217+14_218-56del	XP_011514799.1:n.217+14_218-56del
NM_001199692.2:c.217+14_218-56del	NP_001186621.1:n.217+14_218-56del
NM_001199694.2:c.175+14_176-56del	NP_001186623.1:n.175+14_176-56del
XM_006716094.3:c.217+14_218-56del	XP_006716157.1:n.217+14_218-56del
NM_003040.4:c.217+14_218-56del MANE Select	NP_003031.3:n.217+14_218-56del
NM_001199692.3:c.217+14_218-56del	NP_001186621.1:n.217+14_218-56del