Canonical Allele Identifier: CA2811004133

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337559_12337562del , CM000680.2:g.12337559_12337562del	GRCh38
NC_000018.9:g.12337558_12337561del , CM000680.1:g.12337558_12337561del	GRCh37
NC_000018.8:g.12327558_12327561del	NCBI36
NG_023361.1:g.44716_44719del , LRG_666:g.44716_44719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-26_*1577-23del (AFG3L2)	ENSP00000508998.1:n.*1577-26_*1577-23del
ENST00000687477.1:n.517-26_517-23del (AFG3L2)
ENST00000688199.1:c.1843-26_1843-23del (AFG3L2)	ENSP00000510237.1:n.1843-26_1843-23del
ENST00000691179.1:c.1906-26_1906-23del (AFG3L2)	ENSP00000509010.1:n.1906-26_1906-23del
ENST00000691970.1:c.*1358-26_*1358-23del (AFG3L2)	ENSP00000508440.1:n.*1358-26_*1358-23del
ENST00000692497.1:c.*411-26_*411-23del (AFG3L2)	ENSP00000509870.1:n.*411-26_*411-23del
ENST00000692988.1:n.1799-26_1799-23del (AFG3L2)
ENST00000269143.8:c.1981-26_1981-23del (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-26_1981-23del
ENST00000269143.7:c.1981-26_1981-23del (AFG3L2)	ENSP00000269143.2:n.1981-26_1981-23del
ENST00000586691.1:c.88-6490_88-6487del (TUBB6)
NM_006796.2:c.1981-26_1981-23del , LRG_666t1:c.1981-26_1981-23del (AFG3L2)	NP_006787.2:n.1981-26_1981-23del
XM_011525601.1:c.1780-26_1780-23del (AFG3L2)	XP_011523903.1:n.1780-26_1780-23del
XM_011525601.3:c.1780-26_1780-23del (AFG3L2)	XP_011523903.1:n.1780-26_1780-23del
XR_002958227.1:n.451+657_451+660del
NM_006796.3:c.1981-26_1981-23del (AFG3L2) MANE Select	NP_006787.2:n.1981-26_1981-23del