Canonical Allele Identifier: CA2285199004

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337553_12337556delinsAGTG , CM000680.2:g.12337553_12337556delinsAGTG	GRCh38
NC_000018.9:g.12337552_12337555delinsAGTG , CM000680.1:g.12337552_12337555delinsAGTG	GRCh37
NC_000018.8:g.12327552_12327555delinsAGTG	NCBI36
NG_023361.1:g.44721_44724delinsCACT , LRG_666:g.44721_44724delinsCACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-21_*1577-18delinsCACT (AFG3L2)	ENSP00000508998.1:n.*1577-21_*1577-18delinsCACT
ENST00000687477.1:n.517-21_517-18delinsCACT (AFG3L2)
ENST00000688199.1:c.1843-21_1843-18delinsCACT (AFG3L2)	ENSP00000510237.1:n.1843-21_1843-18delinsCACT
ENST00000691179.1:c.1906-21_1906-18delinsCACT (AFG3L2)	ENSP00000509010.1:n.1906-21_1906-18delinsCACT
ENST00000691970.1:c.*1358-21_*1358-18delinsCACT (AFG3L2)	ENSP00000508440.1:n.*1358-21_*1358-18delinsCACT
ENST00000692497.1:c.*411-21_*411-18delinsCACT (AFG3L2)	ENSP00000509870.1:n.*411-21_*411-18delinsCACT
ENST00000692988.1:n.1799-21_1799-18delinsCACT (AFG3L2)
ENST00000269143.8:c.1981-21_1981-18delinsCACT (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-21_1981-18delinsCACT
ENST00000269143.7:c.1981-21_1981-18delinsCACT (AFG3L2)	ENSP00000269143.2:n.1981-21_1981-18delinsCACT
ENST00000586691.1:c.88-6496_88-6493delinsAGTG (TUBB6)
NM_006796.2:c.1981-21_1981-18delinsCACT , LRG_666t1:c.1981-21_1981-18delinsCACT (AFG3L2)	NP_006787.2:n.1981-21_1981-18delinsCACT
XM_011525601.1:c.1780-21_1780-18delinsCACT (AFG3L2)	XP_011523903.1:n.1780-21_1780-18delinsCACT
XM_011525601.3:c.1780-21_1780-18delinsCACT (AFG3L2)	XP_011523903.1:n.1780-21_1780-18delinsCACT
XR_002958227.1:n.451+651_451+654delinsAGTG
NM_006796.3:c.1981-21_1981-18delinsCACT (AFG3L2) MANE Select	NP_006787.2:n.1981-21_1981-18delinsCACT