Canonical Allele Identifier: CA2811004121

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337537_12337544del , CM000680.2:g.12337537_12337544del	GRCh38
NC_000018.9:g.12337536_12337543del , CM000680.1:g.12337536_12337543del	GRCh37
NC_000018.8:g.12327536_12327543del	NCBI36
NG_023361.1:g.44733_44740del , LRG_666:g.44733_44740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-9_*1577-2del (AFG3L2)	ENSP00000508998.1:n.*1577-9_*1577-2del
ENST00000687477.1:n.517-9_517-2del (AFG3L2)
ENST00000688199.1:c.1843-9_1843-2del (AFG3L2)	ENSP00000510237.1:n.1843-9_1843-2del
ENST00000691179.1:c.1906-9_1906-2del (AFG3L2)	ENSP00000509010.1:n.1906-9_1906-2del
ENST00000691970.1:c.*1358-9_*1358-2del (AFG3L2)	ENSP00000508440.1:n.*1358-9_*1358-2del
ENST00000692497.1:c.*411-9_*411-2del (AFG3L2)	ENSP00000509870.1:n.*411-9_*411-2del
ENST00000692988.1:n.1799-9_1799-2del (AFG3L2)
ENST00000269143.8:c.1981-9_1981-2del (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-9_1981-2del
ENST00000269143.7:c.1981-9_1981-2del (AFG3L2)	ENSP00000269143.2:n.1981-9_1981-2del
ENST00000586691.1:c.88-6512_88-6505del (TUBB6)
NM_006796.2:c.1981-9_1981-2del , LRG_666t1:c.1981-9_1981-2del (AFG3L2)	NP_006787.2:n.1981-9_1981-2del
XM_011525601.1:c.1780-9_1780-2del (AFG3L2)	XP_011523903.1:n.1780-9_1780-2del
XM_011525601.3:c.1780-9_1780-2del (AFG3L2)	XP_011523903.1:n.1780-9_1780-2del
XR_002958227.1:n.451+635_451+642del
NM_006796.3:c.1981-9_1981-2del (AFG3L2) MANE Select	NP_006787.2:n.1981-9_1981-2del