Canonical Allele Identifier: CA2285199101

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337301_12337308delinsTGCAAAAC , CM000680.2:g.12337301_12337308delinsTGCAAAAC	GRCh38
NC_000018.9:g.12337300_12337307delinsTGCAAAAC , CM000680.1:g.12337300_12337307delinsTGCAAAAC	GRCh37
NC_000018.8:g.12327300_12327307delinsTGCAAAAC	NCBI36
NG_023361.1:g.44969_44976delinsGTTTTGCA , LRG_666:g.44969_44976delinsGTTTTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1771+33_*1771+40delinsGTTTTGCA (AFG3L2)	ENSP00000508998.1:n.*1771+33_*1771+40delinsGTTTTGCA
ENST00000687477.1:n.711+33_711+40delinsGTTTTGCA (AFG3L2)
ENST00000688199.1:c.2037+33_2037+40delinsGTTTTGCA (AFG3L2)	ENSP00000510237.1:n.2037+33_2037+40delinsGTTTTGCA
ENST00000691179.1:c.2100+33_2100+40delinsGTTTTGCA (AFG3L2)	ENSP00000509010.1:n.2100+33_2100+40delinsGTTTTGCA
ENST00000691970.1:c.*1552+33_*1552+40delinsGTTTTGCA (AFG3L2)	ENSP00000508440.1:n.*1552+33_*1552+40delinsGTTTTGCA
ENST00000692497.1:c.*605+33_*605+40delinsGTTTTGCA (AFG3L2)	ENSP00000509870.1:n.*605+33_*605+40delinsGTTTTGCA
ENST00000692988.1:n.1993+33_1993+40delinsGTTTTGCA (AFG3L2)
ENST00000269143.8:c.2175+33_2175+40delinsGTTTTGCA (AFG3L2) MANE Select	ENSP00000269143.2:n.2175+33_2175+40delinsGTTTTGCA
ENST00000269143.7:c.2175+33_2175+40delinsGTTTTGCA (AFG3L2)	ENSP00000269143.2:n.2175+33_2175+40delinsGTTTTGCA
ENST00000586691.1:c.88-6748_88-6741delinsTGCAAAAC (TUBB6)
NM_006796.2:c.2175+33_2175+40delinsGTTTTGCA , LRG_666t1:c.2175+33_2175+40delinsGTTTTGCA (AFG3L2)	NP_006787.2:n.2175+33_2175+40delinsGTTTTGCA
XM_011525601.1:c.1974+33_1974+40delinsGTTTTGCA (AFG3L2)	XP_011523903.1:n.1974+33_1974+40delinsGTTTTGCA
XM_011525601.3:c.1974+33_1974+40delinsGTTTTGCA (AFG3L2)	XP_011523903.1:n.1974+33_1974+40delinsGTTTTGCA
XR_002958227.1:n.451+399_451+406delinsTGCAAAAC
NM_006796.3:c.2175+33_2175+40delinsGTTTTGCA (AFG3L2) MANE Select	NP_006787.2:n.2175+33_2175+40delinsGTTTTGCA