Canonical Allele Identifier: CA2569654995

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337581_12337582insTGATACGGCGA , CM000680.2:g.12337581_12337582insTGATACGGCGA	GRCh38
NC_000018.9:g.12337580_12337581insTGATACGGCGA , CM000680.1:g.12337580_12337581insTGATACGGCGA	GRCh37
NC_000018.8:g.12327580_12327581insTGATACGGCGA	NCBI36
NG_023361.1:g.44696_44697insCGCCGTATCAT , LRG_666:g.44696_44697insCGCCGTATCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-46_*1577-45insCGCCGTATCAT (AFG3L2)	ENSP00000508998.1:n.*1577-46_*1577-45insCGCCGTATCAT
ENST00000687477.1:n.517-46_517-45insCGCCGTATCAT (AFG3L2)
ENST00000688199.1:c.1843-46_1843-45insCGCCGTATCAT (AFG3L2)	ENSP00000510237.1:n.1843-46_1843-45insCGCCGTATCAT
ENST00000691179.1:c.1906-46_1906-45insCGCCGTATCAT (AFG3L2)	ENSP00000509010.1:n.1906-46_1906-45insCGCCGTATCAT
ENST00000691970.1:c.*1358-46_*1358-45insCGCCGTATCAT (AFG3L2)	ENSP00000508440.1:n.*1358-46_*1358-45insCGCCGTATCAT
ENST00000692497.1:c.*411-46_*411-45insCGCCGTATCAT (AFG3L2)	ENSP00000509870.1:n.*411-46_*411-45insCGCCGTATCAT
ENST00000692988.1:n.1799-46_1799-45insCGCCGTATCAT (AFG3L2)
ENST00000269143.8:c.1981-46_1981-45insCGCCGTATCAT (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-46_1981-45insCGCCGTATCAT
ENST00000269143.7:c.1981-46_1981-45insCGCCGTATCAT (AFG3L2)	ENSP00000269143.2:n.1981-46_1981-45insCGCCGTATCAT
ENST00000586691.1:c.88-6468_88-6467insTGATACGGCGA (TUBB6)
NM_006796.2:c.1981-46_1981-45insCGCCGTATCAT , LRG_666t1:c.1981-46_1981-45insCGCCGTATCAT (AFG3L2)	NP_006787.2:n.1981-46_1981-45insCGCCGTATCAT
XM_011525601.1:c.1780-46_1780-45insCGCCGTATCAT (AFG3L2)	XP_011523903.1:n.1780-46_1780-45insCGCCGTATCAT
XM_011525601.3:c.1780-46_1780-45insCGCCGTATCAT (AFG3L2)	XP_011523903.1:n.1780-46_1780-45insCGCCGTATCAT
XR_002958227.1:n.451+679_451+680insTGATACGGCGA
NM_006796.3:c.1981-46_1981-45insCGCCGTATCAT (AFG3L2) MANE Select	NP_006787.2:n.1981-46_1981-45insCGCCGTATCAT