Canonical Allele Identifier: CA1425984411

Gene: CLCN2 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355629_184355637delinsGCTGTTGGC , CM000665.2:g.184355629_184355637delinsGCTGTTGGC	GRCh38
NC_000003.11:g.184073417_184073425delinsGCTGTTGGC , CM000665.1:g.184073417_184073425delinsGCTGTTGGC	GRCh37
NC_000003.10:g.185556111_185556119delinsGCTGTTGGC	NCBI36
NG_016422.1:g.10967_10975delinsGCCAACAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1170+57_1170+65delinsGCCAACAGC (CLCN2) MANE Select	ENSP00000265593.4:n.1170+57_1170+65delinsGCCAACAGC
ENST00000475279.2:c.552+57_552+65delinsGCCAACAGC (CLCN2)
ENST00000636180.1:c.*146+57_*146+65delinsGCCAACAGC (CLCN2)	ENSP00000490374.1:n.*146+57_*146+65delinsGCCAACAGC
ENST00000636241.1:c.1061+57_1061+65delinsGCCAACAGC (CLCN2)
ENST00000636492.1:c.1053+57_1053+65delinsGCCAACAGC (CLCN2)	ENSP00000490313.1:n.1053+57_1053+65delinsGCCAACAGC
ENST00000636658.1:c.431+57_431+65delinsGCCAACAGC (CLCN2)
ENST00000636661.1:c.*1360+57_*1360+65delinsGCCAACAGC (CLCN2)	ENSP00000490764.1:n.*1360+57_*1360+65delinsGCCAACAGC
ENST00000637392.1:n.2339_2347delinsGCCAACAGC (CLCN2)
ENST00000637538.1:c.476+57_476+65delinsGCCAACAGC (CLCN2)
ENST00000637909.1:c.976+57_976+65delinsGCCAACAGC (CLCN2)
ENST00000638134.1:c.978+57_978+65delinsGCCAACAGC (CLCN2)
ENST00000265593.8:c.1170+57_1170+65delinsGCCAACAGC (CLCN2)	ENSP00000265593.4:n.1170+57_1170+65delinsGCCAACAGC
ENST00000344937.11:c.1170+57_1170+65delinsGCCAACAGC (CLCN2)	ENSP00000345056.7:n.1170+57_1170+65delinsGCCAACAGC
ENST00000430397.5:c.113+57_113+65delinsGCCAACAGC (CLCN2)
ENST00000434054.6:c.1038+57_1038+65delinsGCCAACAGC (CLCN2)	ENSP00000400425.2:n.1038+57_1038+65delinsGCCAACAGC
ENST00000444495.1:c.2106+210922_2106+210930delinsGCTGTTGGC (EIF2B5)	ENSP00000409142.1:n.2106+210922_2106+210930delinsGCTGTTGGC
ENST00000457512.1:c.1170+57_1170+65delinsGCCAACAGC (CLCN2)	ENSP00000391928.1:n.1170+57_1170+65delinsGCCAACAGC
ENST00000475279.1:n.188+57_188+65delinsGCCAACAGC (CLCN2)
ENST00000485667.1:n.1177+57_1177+65delinsGCCAACAGC (CLCN2)
NM_001171087.2:c.1170+57_1170+65delinsGCCAACAGC (CLCN2)	NP_001164558.1:n.1170+57_1170+65delinsGCCAACAGC
NM_001171088.2:c.1038+57_1038+65delinsGCCAACAGC (CLCN2)	NP_001164559.1:n.1038+57_1038+65delinsGCCAACAGC
NM_001171089.2:c.1170+57_1170+65delinsGCCAACAGC (CLCN2)	NP_001164560.1:n.1170+57_1170+65delinsGCCAACAGC
NM_004366.5:c.1170+57_1170+65delinsGCCAACAGC (CLCN2)	NP_004357.3:n.1170+57_1170+65delinsGCCAACAGC
XM_006713489.1:c.1170+57_1170+65delinsGCCAACAGC (CLCN2)	XP_006713552.1:n.1170+57_1170+65delinsGCCAACAGC
XM_006713490.1:c.12+57_12+65delinsGCCAACAGC (CLCN2)	XP_006713553.1:n.12+57_12+65delinsGCCAACAGC
XM_011512401.1:c.1170+57_1170+65delinsGCCAACAGC (CLCN2)	XP_011510703.1:n.1170+57_1170+65delinsGCCAACAGC
XM_011512402.1:c.1170+57_1170+65delinsGCCAACAGC (CLCN2)	XP_011510704.1:n.1170+57_1170+65delinsGCCAACAGC
XM_006713490.2:c.12+57_12+65delinsGCCAACAGC (CLCN2)	XP_006713553.1:n.12+57_12+65delinsGCCAACAGC
XR_001740001.1:n.1294+57_1294+65delinsGCCAACAGC (CLCN2)
XR_001740002.1:n.1294+57_1294+65delinsGCCAACAGC (CLCN2)
NM_004366.6:c.1170+57_1170+65delinsGCCAACAGC (CLCN2) MANE Select	NP_004357.3:n.1170+57_1170+65delinsGCCAACAGC
NM_001171087.3:c.1170+57_1170+65delinsGCCAACAGC (CLCN2)	NP_001164558.1:n.1170+57_1170+65delinsGCCAACAGC
NM_001171088.3:c.1038+57_1038+65delinsGCCAACAGC (CLCN2)	NP_001164559.1:n.1038+57_1038+65delinsGCCAACAGC
NM_001171089.3:c.1170+57_1170+65delinsGCCAACAGC (CLCN2)	NP_001164560.1:n.1170+57_1170+65delinsGCCAACAGC