Canonical Allele Identifier: CA2285199165

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337719_12337720delinsAC , CM000680.2:g.12337719_12337720delinsAC	GRCh38
NC_000018.9:g.12337718_12337719delinsAC , CM000680.1:g.12337718_12337719delinsAC	GRCh37
NC_000018.8:g.12327718_12327719delinsAC	NCBI36
NG_023361.1:g.44557_44558delinsGT , LRG_666:g.44557_44558delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-185_*1577-184delinsGT (AFG3L2)	ENSP00000508998.1:n.*1577-185_*1577-184delinsGT
ENST00000687477.1:n.517-185_517-184delinsGT (AFG3L2)
ENST00000688199.1:c.1843-185_1843-184delinsGT (AFG3L2)	ENSP00000510237.1:n.1843-185_1843-184delinsGT
ENST00000691179.1:c.1906-185_1906-184delinsGT (AFG3L2)	ENSP00000509010.1:n.1906-185_1906-184delinsGT
ENST00000691970.1:c.*1358-185_*1358-184delinsGT (AFG3L2)	ENSP00000508440.1:n.*1358-185_*1358-184delinsGT
ENST00000692497.1:c.*411-185_*411-184delinsGT (AFG3L2)	ENSP00000509870.1:n.*411-185_*411-184delinsGT
ENST00000692988.1:n.1799-185_1799-184delinsGT (AFG3L2)
ENST00000269143.8:c.1981-185_1981-184delinsGT (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-185_1981-184delinsGT
ENST00000269143.7:c.1981-185_1981-184delinsGT (AFG3L2)	ENSP00000269143.2:n.1981-185_1981-184delinsGT
ENST00000586691.1:c.88-6330_88-6329delinsAC (TUBB6)
NM_006796.2:c.1981-185_1981-184delinsGT , LRG_666t1:c.1981-185_1981-184delinsGT (AFG3L2)	NP_006787.2:n.1981-185_1981-184delinsGT
XM_011525601.1:c.1780-185_1780-184delinsGT (AFG3L2)	XP_011523903.1:n.1780-185_1780-184delinsGT
XM_011525601.3:c.1780-185_1780-184delinsGT (AFG3L2)	XP_011523903.1:n.1780-185_1780-184delinsGT
XR_002958227.1:n.451+817_451+818delinsAC
NM_006796.3:c.1981-185_1981-184delinsGT (AFG3L2) MANE Select	NP_006787.2:n.1981-185_1981-184delinsGT