Canonical Allele Identifier: CA1440710534

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15597428_15597434delinsCGCTCAG , CM000666.2:g.15597428_15597434delinsCGCTCAG	GRCh38
NC_000004.11:g.15599051_15599057delinsCGCTCAG , CM000666.1:g.15599051_15599057delinsCGCTCAG	GRCh37
NC_000004.10:g.15208149_15208155delinsCGCTCAG	NCBI36
NG_013035.1:g.132563_132569delinsCGCTCAG , LRG_697:g.132563_132569delinsCGCTCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.4495_4501delinsCGCTCAG	ENSP00000374303.8:p.Arg1499=
ENST00000424120.6:c.4459_4465delinsCGCTCAG MANE Select	ENSP00000403465.1:p.Arg1487=
ENST00000503292.6:c.4459_4465delinsCGCTCAG	ENSP00000421809.1:p.Arg1487=
ENST00000506643.5:c.4312_4318delinsCGCTCAG	ENSP00000422931.2:p.Arg1438=
ENST00000513035.2:n.358_364delinsCGCTCAG
ENST00000514039.6:c.565_571delinsCGCTCAG	ENSP00000488534.2:p.Arg189=
ENST00000634028.2:c.4253_4259delinsCGCTCAG	ENSP00000488669.2:n.4253_4259delinsCGCTCAG
ENST00000650860.2:c.*1956_*1962delinsCGCTCAG	ENSP00000498775.1:n.*1956_*1962delinsCGCTCAG
ENST00000674945.1:c.4135_4141delinsCGCTCAG	ENSP00000502333.1:p.Arg1379=
ENST00000680586.1:n.5118_5124delinsCGCTCAG
ENST00000389652.9:c.3957_3963delinsCGCTCAG
ENST00000424120.5:c.4459_4465delinsCGCTCAG	ENSP00000403465.1:p.Arg1487=
ENST00000503292.5:c.4459_4465delinsCGCTCAG	ENSP00000421809.1:p.Arg1487=
ENST00000506643.4:c.2728_2734delinsCGCTCAG
ENST00000513035.1:n.358_364delinsCGCTCAG
ENST00000514039.5:c.75_81delinsCGCTCAG
ENST00000634028.1:c.4265_4271delinsCGCTCAG	ENSP00000488669.1:n.4265_4271delinsCGCTCAG
NM_001080522.2:c.4459_4465delinsCGCTCAG , LRG_697t1:c.4459_4465delinsCGCTCAG	NP_001073991.2:p.Arg1487=
XM_005248177.1:c.4459_4465delinsCGCTCAG	XP_005248234.1:p.Arg1487=
XM_011513869.1:c.4477_4483delinsCGCTCAG	XP_011512171.1:p.Arg1493=
XM_011513870.1:c.4477_4483delinsCGCTCAG	XP_011512172.1:p.Arg1493=
XM_011513871.1:c.4330_4336delinsCGCTCAG	XP_011512173.1:p.Arg1444=
XM_017008482.1:c.4312_4318delinsCGCTCAG	XP_016863971.1:p.Arg1438=
NM_001378615.1:c.4459_4465delinsCGCTCAG MANE Select	NP_001365544.1:p.Arg1487=
NM_001378617.1:c.4312_4318delinsCGCTCAG	NP_001365546.1:p.Arg1438=