Canonical Allele Identifier: CA2285199139

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337691_12337693delinsAAC , CM000680.2:g.12337691_12337693delinsAAC	GRCh38
NC_000018.9:g.12337690_12337692delinsAAC , CM000680.1:g.12337690_12337692delinsAAC	GRCh37
NC_000018.8:g.12327690_12327692delinsAAC	NCBI36
NG_023361.1:g.44584_44586delinsGTT , LRG_666:g.44584_44586delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-158_*1577-156delinsGTT (AFG3L2)	ENSP00000508998.1:n.*1577-158_*1577-156delinsGTT
ENST00000687477.1:n.517-158_517-156delinsGTT (AFG3L2)
ENST00000688199.1:c.1843-158_1843-156delinsGTT (AFG3L2)	ENSP00000510237.1:n.1843-158_1843-156delinsGTT
ENST00000691179.1:c.1906-158_1906-156delinsGTT (AFG3L2)	ENSP00000509010.1:n.1906-158_1906-156delinsGTT
ENST00000691970.1:c.*1358-158_*1358-156delinsGTT (AFG3L2)	ENSP00000508440.1:n.*1358-158_*1358-156delinsGTT
ENST00000692497.1:c.*411-158_*411-156delinsGTT (AFG3L2)	ENSP00000509870.1:n.*411-158_*411-156delinsGTT
ENST00000692988.1:n.1799-158_1799-156delinsGTT (AFG3L2)
ENST00000269143.8:c.1981-158_1981-156delinsGTT (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-158_1981-156delinsGTT
ENST00000269143.7:c.1981-158_1981-156delinsGTT (AFG3L2)	ENSP00000269143.2:n.1981-158_1981-156delinsGTT
ENST00000586691.1:c.88-6358_88-6356delinsAAC (TUBB6)
NM_006796.2:c.1981-158_1981-156delinsGTT , LRG_666t1:c.1981-158_1981-156delinsGTT (AFG3L2)	NP_006787.2:n.1981-158_1981-156delinsGTT
XM_011525601.1:c.1780-158_1780-156delinsGTT (AFG3L2)	XP_011523903.1:n.1780-158_1780-156delinsGTT
XM_011525601.3:c.1780-158_1780-156delinsGTT (AFG3L2)	XP_011523903.1:n.1780-158_1780-156delinsGTT
XR_002958227.1:n.451+789_451+791delinsAAC
NM_006796.3:c.1981-158_1981-156delinsGTT (AFG3L2) MANE Select	NP_006787.2:n.1981-158_1981-156delinsGTT