Canonical Allele Identifier: CA2285199193

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337776_12337780delinsCTCTT , CM000680.2:g.12337776_12337780delinsCTCTT	GRCh38
NC_000018.9:g.12337775_12337779delinsCTCTT , CM000680.1:g.12337775_12337779delinsCTCTT	GRCh37
NC_000018.8:g.12327775_12327779delinsCTCTT	NCBI36
NG_023361.1:g.44497_44501delinsAAGAG , LRG_666:g.44497_44501delinsAAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-245_*1577-241delinsAAGAG (AFG3L2)	ENSP00000508998.1:n.*1577-245_*1577-241delinsAAGAG
ENST00000687477.1:n.517-245_517-241delinsAAGAG (AFG3L2)
ENST00000688199.1:c.1843-245_1843-241delinsAAGAG (AFG3L2)	ENSP00000510237.1:n.1843-245_1843-241delinsAAGAG
ENST00000691179.1:c.1906-245_1906-241delinsAAGAG (AFG3L2)	ENSP00000509010.1:n.1906-245_1906-241delinsAAGAG
ENST00000691970.1:c.*1358-245_*1358-241delinsAAGAG (AFG3L2)	ENSP00000508440.1:n.*1358-245_*1358-241delinsAAGAG
ENST00000692497.1:c.*411-245_*411-241delinsAAGAG (AFG3L2)	ENSP00000509870.1:n.*411-245_*411-241delinsAAGAG
ENST00000692988.1:n.1799-245_1799-241delinsAAGAG (AFG3L2)
ENST00000269143.8:c.1981-245_1981-241delinsAAGAG (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-245_1981-241delinsAAGAG
ENST00000269143.7:c.1981-245_1981-241delinsAAGAG (AFG3L2)	ENSP00000269143.2:n.1981-245_1981-241delinsAAGAG
ENST00000586691.1:c.88-6273_88-6269delinsCTCTT (TUBB6)
NM_006796.2:c.1981-245_1981-241delinsAAGAG , LRG_666t1:c.1981-245_1981-241delinsAAGAG (AFG3L2)	NP_006787.2:n.1981-245_1981-241delinsAAGAG
XM_011525601.1:c.1780-245_1780-241delinsAAGAG (AFG3L2)	XP_011523903.1:n.1780-245_1780-241delinsAAGAG
XM_011525601.3:c.1780-245_1780-241delinsAAGAG (AFG3L2)	XP_011523903.1:n.1780-245_1780-241delinsAAGAG
XR_002958227.1:n.451+874_451+878delinsCTCTT
NM_006796.3:c.1981-245_1981-241delinsAAGAG (AFG3L2) MANE Select	NP_006787.2:n.1981-245_1981-241delinsAAGAG