Canonical Allele Identifier: CA2285198728

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337359_12337361delinsCTT , CM000680.2:g.12337359_12337361delinsCTT	GRCh38
NC_000018.9:g.12337358_12337360delinsCTT , CM000680.1:g.12337358_12337360delinsCTT	GRCh37
NC_000018.8:g.12327358_12327360delinsCTT	NCBI36
NG_023361.1:g.44916_44918delinsAAG , LRG_666:g.44916_44918delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1751_*1753delinsAAG (AFG3L2)	ENSP00000508998.1:n.*1751_*1753delinsAAG
ENST00000687477.1:n.691_693delinsAAG (AFG3L2)
ENST00000688199.1:c.2017_2019delinsAAG (AFG3L2)	ENSP00000510237.1:p.Lys673=
ENST00000691179.1:c.2080_2082delinsAAG (AFG3L2)	ENSP00000509010.1:p.Lys694=
ENST00000691970.1:c.*1532_*1534delinsAAG (AFG3L2)	ENSP00000508440.1:n.*1532_*1534delinsAAG
ENST00000692497.1:c.*585_*587delinsAAG (AFG3L2)	ENSP00000509870.1:n.*585_*587delinsAAG
ENST00000692988.1:n.1973_1975delinsAAG (AFG3L2)
ENST00000269143.8:c.2155_2157delinsAAG (AFG3L2) MANE Select	ENSP00000269143.2:p.Lys719=
ENST00000269143.7:c.2155_2157delinsAAG (AFG3L2)	ENSP00000269143.2:p.Lys719=
ENST00000586691.1:c.88-6690_88-6688delinsCTT (TUBB6)
NM_006796.2:c.2155_2157delinsAAG , LRG_666t1:c.2155_2157delinsAAG (AFG3L2)	NP_006787.2:p.Lys719=
XM_011525601.1:c.1954_1956delinsAAG (AFG3L2)	XP_011523903.1:p.Lys652=
XM_011525601.3:c.1954_1956delinsAAG (AFG3L2)	XP_011523903.1:p.Lys652=
XR_002958227.1:n.451+457_451+459delinsCTT
NM_006796.3:c.2155_2157delinsAAG (AFG3L2) MANE Select	NP_006787.2:p.Lys719=