Canonical Allele Identifier: CA2285198771

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337394_12337396delinsCAT , CM000680.2:g.12337394_12337396delinsCAT	GRCh38
NC_000018.9:g.12337393_12337395delinsCAT , CM000680.1:g.12337393_12337395delinsCAT	GRCh37
NC_000018.8:g.12327393_12327395delinsCAT	NCBI36
NG_023361.1:g.44881_44883delinsATG , LRG_666:g.44881_44883delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1716_*1718delinsATG (AFG3L2)	ENSP00000508998.1:n.*1716_*1718delinsATG
ENST00000687477.1:n.656_658delinsATG (AFG3L2)
ENST00000688199.1:c.1982_1984delinsATG (AFG3L2)	ENSP00000510237.1:p.Asp661=
ENST00000691179.1:c.2045_2047delinsATG (AFG3L2)	ENSP00000509010.1:p.Asp682=
ENST00000691970.1:c.*1497_*1499delinsATG (AFG3L2)	ENSP00000508440.1:n.*1497_*1499delinsATG
ENST00000692497.1:c.*550_*552delinsATG (AFG3L2)	ENSP00000509870.1:n.*550_*552delinsATG
ENST00000692988.1:n.1938_1940delinsATG (AFG3L2)
ENST00000269143.8:c.2120_2122delinsATG (AFG3L2) MANE Select	ENSP00000269143.2:p.Asp707=
ENST00000269143.7:c.2120_2122delinsATG (AFG3L2)	ENSP00000269143.2:p.Asp707=
ENST00000586691.1:c.88-6655_88-6653delinsCAT (TUBB6)
NM_006796.2:c.2120_2122delinsATG , LRG_666t1:c.2120_2122delinsATG (AFG3L2)	NP_006787.2:p.Asp707=
XM_011525601.1:c.1919_1921delinsATG (AFG3L2)	XP_011523903.1:p.Asp640=
XM_011525601.3:c.1919_1921delinsATG (AFG3L2)	XP_011523903.1:p.Asp640=
XR_002958227.1:n.451+492_451+494delinsCAT
NM_006796.3:c.2120_2122delinsATG (AFG3L2) MANE Select	NP_006787.2:p.Asp707=