Canonical Allele Identifier: CA2811004240

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337658_12337664del , CM000680.2:g.12337658_12337664del	GRCh38
NC_000018.9:g.12337657_12337663del , CM000680.1:g.12337657_12337663del	GRCh37
NC_000018.8:g.12327657_12327663del	NCBI36
NG_023361.1:g.44613_44619del , LRG_666:g.44613_44619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-129_*1577-123del (AFG3L2)	ENSP00000508998.1:n.*1577-129_*1577-123del
ENST00000687477.1:n.517-129_517-123del (AFG3L2)
ENST00000688199.1:c.1843-129_1843-123del (AFG3L2)	ENSP00000510237.1:n.1843-129_1843-123del
ENST00000691179.1:c.1906-129_1906-123del (AFG3L2)	ENSP00000509010.1:n.1906-129_1906-123del
ENST00000691970.1:c.*1358-129_*1358-123del (AFG3L2)	ENSP00000508440.1:n.*1358-129_*1358-123del
ENST00000692497.1:c.*411-129_*411-123del (AFG3L2)	ENSP00000509870.1:n.*411-129_*411-123del
ENST00000692988.1:n.1799-129_1799-123del (AFG3L2)
ENST00000269143.8:c.1981-129_1981-123del (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-129_1981-123del
ENST00000269143.7:c.1981-129_1981-123del (AFG3L2)	ENSP00000269143.2:n.1981-129_1981-123del
ENST00000586691.1:c.88-6391_88-6385del (TUBB6)
NM_006796.2:c.1981-129_1981-123del , LRG_666t1:c.1981-129_1981-123del (AFG3L2)	NP_006787.2:n.1981-129_1981-123del
XM_011525601.1:c.1780-129_1780-123del (AFG3L2)	XP_011523903.1:n.1780-129_1780-123del
XM_011525601.3:c.1780-129_1780-123del (AFG3L2)	XP_011523903.1:n.1780-129_1780-123del
XR_002958227.1:n.451+756_451+762del
NM_006796.3:c.1981-129_1981-123del (AFG3L2) MANE Select	NP_006787.2:n.1981-129_1981-123del