Canonical Allele Identifier: CA2285198970

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337521_12337522delinsGC , CM000680.2:g.12337521_12337522delinsGC	GRCh38
NC_000018.9:g.12337520_12337521delinsGC , CM000680.1:g.12337520_12337521delinsGC	GRCh37
NC_000018.8:g.12327520_12327521delinsGC	NCBI36
NG_023361.1:g.44755_44756delinsGC , LRG_666:g.44755_44756delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1590_*1591delinsGC (AFG3L2)	ENSP00000508998.1:n.*1590_*1591delinsGC
ENST00000687477.1:n.530_531delinsGC (AFG3L2)
ENST00000688199.1:c.1856_1857delinsGC (AFG3L2)	ENSP00000510237.1:p.Gly619=
ENST00000691179.1:c.1919_1920delinsGC (AFG3L2)	ENSP00000509010.1:p.Gly640=
ENST00000691970.1:c.*1371_*1372delinsGC (AFG3L2)	ENSP00000508440.1:n.*1371_*1372delinsGC
ENST00000692497.1:c.*424_*425delinsGC (AFG3L2)	ENSP00000509870.1:n.*424_*425delinsGC
ENST00000692988.1:n.1812_1813delinsGC (AFG3L2)
ENST00000269143.8:c.1994_1995delinsGC (AFG3L2) MANE Select	ENSP00000269143.2:p.Gly665=
ENST00000269143.7:c.1994_1995delinsGC (AFG3L2)	ENSP00000269143.2:p.Gly665=
ENST00000586691.1:c.88-6528_88-6527delinsGC (TUBB6)
NM_006796.2:c.1994_1995delinsGC , LRG_666t1:c.1994_1995delinsGC (AFG3L2)	NP_006787.2:p.Gly665=
XM_011525601.1:c.1793_1794delinsGC (AFG3L2)	XP_011523903.1:p.Gly598=
XM_011525601.3:c.1793_1794delinsGC (AFG3L2)	XP_011523903.1:p.Gly598=
XR_002958227.1:n.451+619_451+620delinsGC
NM_006796.3:c.1994_1995delinsGC (AFG3L2) MANE Select	NP_006787.2:p.Gly665=