Canonical Allele Identifier: CA2285198890

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337447_12337449delinsCTG , CM000680.2:g.12337447_12337449delinsCTG	GRCh38
NC_000018.9:g.12337446_12337448delinsCTG , CM000680.1:g.12337446_12337448delinsCTG	GRCh37
NC_000018.8:g.12327446_12327448delinsCTG	NCBI36
NG_023361.1:g.44828_44830delinsCAG , LRG_666:g.44828_44830delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1663_*1665delinsCAG (AFG3L2)	ENSP00000508998.1:n.*1663_*1665delinsCAG
ENST00000687477.1:n.603_605delinsCAG (AFG3L2)
ENST00000688199.1:c.1929_1931delinsCAG (AFG3L2)	ENSP00000510237.1:p.Tyr643=
ENST00000691179.1:c.1992_1994delinsCAG (AFG3L2)	ENSP00000509010.1:p.Tyr664=
ENST00000691970.1:c.*1444_*1446delinsCAG (AFG3L2)	ENSP00000508440.1:n.*1444_*1446delinsCAG
ENST00000692497.1:c.*497_*499delinsCAG (AFG3L2)	ENSP00000509870.1:n.*497_*499delinsCAG
ENST00000692988.1:n.1885_1887delinsCAG (AFG3L2)
ENST00000269143.8:c.2067_2069delinsCAG (AFG3L2) MANE Select	ENSP00000269143.2:p.Tyr689=
ENST00000269143.7:c.2067_2069delinsCAG (AFG3L2)	ENSP00000269143.2:p.Tyr689=
ENST00000586691.1:c.88-6602_88-6600delinsCTG (TUBB6)
NM_006796.2:c.2067_2069delinsCAG , LRG_666t1:c.2067_2069delinsCAG (AFG3L2)	NP_006787.2:p.Tyr689=
XM_011525601.1:c.1866_1868delinsCAG (AFG3L2)	XP_011523903.1:p.Tyr622=
XM_011525601.3:c.1866_1868delinsCAG (AFG3L2)	XP_011523903.1:p.Tyr622=
XR_002958227.1:n.451+545_451+547delinsCTG
NM_006796.3:c.2067_2069delinsCAG (AFG3L2) MANE Select	NP_006787.2:p.Tyr689=