Canonical Allele Identifier: CA2685635452

Gene: SLC4A2

Linked Data

• gnomAD v4: 7-151064371-AGGGGGCAGGCAGGGGAGGGGGAGGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151064377_151064402del , CM000669.2:g.151064377_151064402del	GRCh38
NC_000007.13:g.150761464_150761489del , CM000669.1:g.150761464_150761489del	GRCh37
NC_000007.12:g.150392397_150392422del	NCBI36
NG_051947.1:g.11178_11203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413384.7:c.217+10_217+35del MANE Select	ENSP00000405600.2:n.217+10_217+35del
ENST00000677246.1:c.217+10_217+35del	ENSP00000504447.1:n.217+10_217+35del
ENST00000310317.9:c.52-228_52-203del	ENSP00000311402.5:n.52-228_52-203del
ENST00000392826.6:c.190+10_190+35del	ENSP00000376571.2:n.190+10_190+35del
ENST00000413384.6:c.217+10_217+35del	ENSP00000405600.2:n.217+10_217+35del
ENST00000461735.1:c.175+10_175+35del	ENSP00000419164.1:n.175+10_175+35del
ENST00000463414.5:c.217+10_217+35del	ENSP00000418584.1:n.217+10_217+35del
ENST00000482950.5:c.217+10_217+35del	ENSP00000419379.1:n.217+10_217+35del
ENST00000483786.5:c.217+10_217+35del	ENSP00000417808.1:n.217+10_217+35del
ENST00000485713.5:c.217+10_217+35del	ENSP00000419412.1:n.217+10_217+35del
ENST00000490898.5:c.217+10_217+35del	ENSP00000418114.1:n.217+10_217+35del
ENST00000494125.1:n.462_487del
NM_001199692.1:c.217+10_217+35del	NP_001186621.1:n.217+10_217+35del
NM_001199693.1:c.190+10_190+35del	NP_001186622.1:n.190+10_190+35del
NM_001199694.1:c.175+10_175+35del	NP_001186623.1:n.175+10_175+35del
NM_003040.3:c.217+10_217+35del	NP_003031.3:n.217+10_217+35del
XM_006716094.2:c.217+10_217+35del	XP_006716157.1:n.217+10_217+35del
XM_011516497.1:c.217+10_217+35del	XP_011514799.1:n.217+10_217+35del
NM_001199692.2:c.217+10_217+35del	NP_001186621.1:n.217+10_217+35del
NM_001199694.2:c.175+10_175+35del	NP_001186623.1:n.175+10_175+35del
XM_006716094.3:c.217+10_217+35del	XP_006716157.1:n.217+10_217+35del
NM_003040.4:c.217+10_217+35del MANE Select	NP_003031.3:n.217+10_217+35del
NM_001199692.3:c.217+10_217+35del	NP_001186621.1:n.217+10_217+35del