Canonical Allele Identifier: CA2538209761

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337587_12337589del , CM000680.2:g.12337587_12337589del	GRCh38
NC_000018.9:g.12337586_12337588del , CM000680.1:g.12337586_12337588del	GRCh37
NC_000018.8:g.12327586_12327588del	NCBI36
NG_023361.1:g.44689_44691del , LRG_666:g.44689_44691del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-53_*1577-51del (AFG3L2)	ENSP00000508998.1:n.*1577-53_*1577-51del
ENST00000687477.1:n.517-53_517-51del (AFG3L2)
ENST00000688199.1:c.1843-53_1843-51del (AFG3L2)	ENSP00000510237.1:n.1843-53_1843-51del
ENST00000691179.1:c.1906-53_1906-51del (AFG3L2)	ENSP00000509010.1:n.1906-53_1906-51del
ENST00000691970.1:c.*1358-53_*1358-51del (AFG3L2)	ENSP00000508440.1:n.*1358-53_*1358-51del
ENST00000692497.1:c.*411-53_*411-51del (AFG3L2)	ENSP00000509870.1:n.*411-53_*411-51del
ENST00000692988.1:n.1799-53_1799-51del (AFG3L2)
ENST00000269143.8:c.1981-53_1981-51del (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-53_1981-51del
ENST00000269143.7:c.1981-53_1981-51del (AFG3L2)	ENSP00000269143.2:n.1981-53_1981-51del
ENST00000586691.1:c.88-6462_88-6460del (TUBB6)
NM_006796.2:c.1981-53_1981-51del , LRG_666t1:c.1981-53_1981-51del (AFG3L2)	NP_006787.2:n.1981-53_1981-51del
XM_011525601.1:c.1780-53_1780-51del (AFG3L2)	XP_011523903.1:n.1780-53_1780-51del
XM_011525601.3:c.1780-53_1780-51del (AFG3L2)	XP_011523903.1:n.1780-53_1780-51del
XR_002958227.1:n.451+685_451+687del
NM_006796.3:c.1981-53_1981-51del (AFG3L2) MANE Select	NP_006787.2:n.1981-53_1981-51del