Canonical Allele Identifier: CA2285199202

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337788_12337789delinsTA , CM000680.2:g.12337788_12337789delinsTA	GRCh38
NC_000018.9:g.12337787_12337788delinsTA , CM000680.1:g.12337787_12337788delinsTA	GRCh37
NC_000018.8:g.12327787_12327788delinsTA	NCBI36
NG_023361.1:g.44488_44489delinsTA , LRG_666:g.44488_44489delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-254_*1577-253delinsTA (AFG3L2)	ENSP00000508998.1:n.*1577-254_*1577-253delinsTA
ENST00000687477.1:n.517-254_517-253delinsTA (AFG3L2)
ENST00000688199.1:c.1843-254_1843-253delinsTA (AFG3L2)	ENSP00000510237.1:n.1843-254_1843-253delinsTA
ENST00000691179.1:c.1906-254_1906-253delinsTA (AFG3L2)	ENSP00000509010.1:n.1906-254_1906-253delinsTA
ENST00000691970.1:c.*1358-254_*1358-253delinsTA (AFG3L2)	ENSP00000508440.1:n.*1358-254_*1358-253delinsTA
ENST00000692497.1:c.*411-254_*411-253delinsTA (AFG3L2)	ENSP00000509870.1:n.*411-254_*411-253delinsTA
ENST00000692988.1:n.1799-254_1799-253delinsTA (AFG3L2)
ENST00000269143.8:c.1981-254_1981-253delinsTA (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-254_1981-253delinsTA
ENST00000269143.7:c.1981-254_1981-253delinsTA (AFG3L2)	ENSP00000269143.2:n.1981-254_1981-253delinsTA
ENST00000586691.1:c.88-6261_88-6260delinsTA (TUBB6)
NM_006796.2:c.1981-254_1981-253delinsTA , LRG_666t1:c.1981-254_1981-253delinsTA (AFG3L2)	NP_006787.2:n.1981-254_1981-253delinsTA
XM_011525601.1:c.1780-254_1780-253delinsTA (AFG3L2)	XP_011523903.1:n.1780-254_1780-253delinsTA
XM_011525601.3:c.1780-254_1780-253delinsTA (AFG3L2)	XP_011523903.1:n.1780-254_1780-253delinsTA
XR_002958227.1:n.451+886_451+887delinsTA
NM_006796.3:c.1981-254_1981-253delinsTA (AFG3L2) MANE Select	NP_006787.2:n.1981-254_1981-253delinsTA