Canonical Allele Identifier: CA2811004171

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337607_12337608del , CM000680.2:g.12337607_12337608del	GRCh38
NC_000018.9:g.12337606_12337607del , CM000680.1:g.12337606_12337607del	GRCh37
NC_000018.8:g.12327606_12327607del	NCBI36
NG_023361.1:g.44669_44670del , LRG_666:g.44669_44670del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-73_*1577-72del (AFG3L2)	ENSP00000508998.1:n.*1577-73_*1577-72del
ENST00000687477.1:n.517-73_517-72del (AFG3L2)
ENST00000688199.1:c.1843-73_1843-72del (AFG3L2)	ENSP00000510237.1:n.1843-73_1843-72del
ENST00000691179.1:c.1906-73_1906-72del (AFG3L2)	ENSP00000509010.1:n.1906-73_1906-72del
ENST00000691970.1:c.*1358-73_*1358-72del (AFG3L2)	ENSP00000508440.1:n.*1358-73_*1358-72del
ENST00000692497.1:c.*411-73_*411-72del (AFG3L2)	ENSP00000509870.1:n.*411-73_*411-72del
ENST00000692988.1:n.1799-73_1799-72del (AFG3L2)
ENST00000269143.8:c.1981-73_1981-72del (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-73_1981-72del
ENST00000269143.7:c.1981-73_1981-72del (AFG3L2)	ENSP00000269143.2:n.1981-73_1981-72del
ENST00000586691.1:c.88-6442_88-6441del (TUBB6)
NM_006796.2:c.1981-73_1981-72del , LRG_666t1:c.1981-73_1981-72del (AFG3L2)	NP_006787.2:n.1981-73_1981-72del
XM_011525601.1:c.1780-73_1780-72del (AFG3L2)	XP_011523903.1:n.1780-73_1780-72del
XM_011525601.3:c.1780-73_1780-72del (AFG3L2)	XP_011523903.1:n.1780-73_1780-72del
XR_002958227.1:n.451+705_451+706del
NM_006796.3:c.1981-73_1981-72del (AFG3L2) MANE Select	NP_006787.2:n.1981-73_1981-72del