Canonical Allele Identifier: CA2285199135

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337686_12337687delinsCT , CM000680.2:g.12337686_12337687delinsCT	GRCh38
NC_000018.9:g.12337685_12337686delinsCT , CM000680.1:g.12337685_12337686delinsCT	GRCh37
NC_000018.8:g.12327685_12327686delinsCT	NCBI36
NG_023361.1:g.44590_44591delinsAG , LRG_666:g.44590_44591delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-152_*1577-151delinsAG (AFG3L2)	ENSP00000508998.1:n.*1577-152_*1577-151delinsAG
ENST00000687477.1:n.517-152_517-151delinsAG (AFG3L2)
ENST00000688199.1:c.1843-152_1843-151delinsAG (AFG3L2)	ENSP00000510237.1:n.1843-152_1843-151delinsAG
ENST00000691179.1:c.1906-152_1906-151delinsAG (AFG3L2)	ENSP00000509010.1:n.1906-152_1906-151delinsAG
ENST00000691970.1:c.*1358-152_*1358-151delinsAG (AFG3L2)	ENSP00000508440.1:n.*1358-152_*1358-151delinsAG
ENST00000692497.1:c.*411-152_*411-151delinsAG (AFG3L2)	ENSP00000509870.1:n.*411-152_*411-151delinsAG
ENST00000692988.1:n.1799-152_1799-151delinsAG (AFG3L2)
ENST00000269143.8:c.1981-152_1981-151delinsAG (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-152_1981-151delinsAG
ENST00000269143.7:c.1981-152_1981-151delinsAG (AFG3L2)	ENSP00000269143.2:n.1981-152_1981-151delinsAG
ENST00000586691.1:c.88-6363_88-6362delinsCT (TUBB6)
NM_006796.2:c.1981-152_1981-151delinsAG , LRG_666t1:c.1981-152_1981-151delinsAG (AFG3L2)	NP_006787.2:n.1981-152_1981-151delinsAG
XM_011525601.1:c.1780-152_1780-151delinsAG (AFG3L2)	XP_011523903.1:n.1780-152_1780-151delinsAG
XM_011525601.3:c.1780-152_1780-151delinsAG (AFG3L2)	XP_011523903.1:n.1780-152_1780-151delinsAG
XR_002958227.1:n.451+784_451+785delinsCT
NM_006796.3:c.1981-152_1981-151delinsAG (AFG3L2) MANE Select	NP_006787.2:n.1981-152_1981-151delinsAG