Canonical Allele Identifier: CA2811004266

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337738_12337740del , CM000680.2:g.12337738_12337740del	GRCh38
NC_000018.9:g.12337737_12337739del , CM000680.1:g.12337737_12337739del	GRCh37
NC_000018.8:g.12327737_12327739del	NCBI36
NG_023361.1:g.44537_44539del , LRG_666:g.44537_44539del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-205_*1577-203del (AFG3L2)	ENSP00000508998.1:n.*1577-205_*1577-203del
ENST00000687477.1:n.517-205_517-203del (AFG3L2)
ENST00000688199.1:c.1843-205_1843-203del (AFG3L2)	ENSP00000510237.1:n.1843-205_1843-203del
ENST00000691179.1:c.1906-205_1906-203del (AFG3L2)	ENSP00000509010.1:n.1906-205_1906-203del
ENST00000691970.1:c.*1358-205_*1358-203del (AFG3L2)	ENSP00000508440.1:n.*1358-205_*1358-203del
ENST00000692497.1:c.*411-205_*411-203del (AFG3L2)	ENSP00000509870.1:n.*411-205_*411-203del
ENST00000692988.1:n.1799-205_1799-203del (AFG3L2)
ENST00000269143.8:c.1981-205_1981-203del (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-205_1981-203del
ENST00000269143.7:c.1981-205_1981-203del (AFG3L2)	ENSP00000269143.2:n.1981-205_1981-203del
ENST00000586691.1:c.88-6311_88-6309del (TUBB6)
NM_006796.2:c.1981-205_1981-203del , LRG_666t1:c.1981-205_1981-203del (AFG3L2)	NP_006787.2:n.1981-205_1981-203del
XM_011525601.1:c.1780-205_1780-203del (AFG3L2)	XP_011523903.1:n.1780-205_1780-203del
XM_011525601.3:c.1780-205_1780-203del (AFG3L2)	XP_011523903.1:n.1780-205_1780-203del
XR_002958227.1:n.451+836_451+838del
NM_006796.3:c.1981-205_1981-203del (AFG3L2) MANE Select	NP_006787.2:n.1981-205_1981-203del