Canonical Allele Identifier: CA2285199090

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337293_12337294delinsCT , CM000680.2:g.12337293_12337294delinsCT	GRCh38
NC_000018.9:g.12337292_12337293delinsCT , CM000680.1:g.12337292_12337293delinsCT	GRCh37
NC_000018.8:g.12327292_12327293delinsCT	NCBI36
NG_023361.1:g.44983_44984delinsAG , LRG_666:g.44983_44984delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1771+47_*1771+48delinsAG (AFG3L2)	ENSP00000508998.1:n.*1771+47_*1771+48delinsAG
ENST00000687477.1:n.711+47_711+48delinsAG (AFG3L2)
ENST00000688199.1:c.2037+47_2037+48delinsAG (AFG3L2)	ENSP00000510237.1:n.2037+47_2037+48delinsAG
ENST00000691179.1:c.2100+47_2100+48delinsAG (AFG3L2)	ENSP00000509010.1:n.2100+47_2100+48delinsAG
ENST00000691970.1:c.*1552+47_*1552+48delinsAG (AFG3L2)	ENSP00000508440.1:n.*1552+47_*1552+48delinsAG
ENST00000692497.1:c.*605+47_*605+48delinsAG (AFG3L2)	ENSP00000509870.1:n.*605+47_*605+48delinsAG
ENST00000692988.1:n.1993+47_1993+48delinsAG (AFG3L2)
ENST00000269143.8:c.2175+47_2175+48delinsAG (AFG3L2) MANE Select	ENSP00000269143.2:n.2175+47_2175+48delinsAG
ENST00000269143.7:c.2175+47_2175+48delinsAG (AFG3L2)	ENSP00000269143.2:n.2175+47_2175+48delinsAG
ENST00000586691.1:c.88-6756_88-6755delinsCT (TUBB6)
NM_006796.2:c.2175+47_2175+48delinsAG , LRG_666t1:c.2175+47_2175+48delinsAG (AFG3L2)	NP_006787.2:n.2175+47_2175+48delinsAG
XM_011525601.1:c.1974+47_1974+48delinsAG (AFG3L2)	XP_011523903.1:n.1974+47_1974+48delinsAG
XM_011525601.3:c.1974+47_1974+48delinsAG (AFG3L2)	XP_011523903.1:n.1974+47_1974+48delinsAG
XR_002958227.1:n.451+391_451+392delinsCT
NM_006796.3:c.2175+47_2175+48delinsAG (AFG3L2) MANE Select	NP_006787.2:n.2175+47_2175+48delinsAG