Canonical Allele Identifier: CA2544950259

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337564_12337573del , CM000680.2:g.12337564_12337573del	GRCh38
NC_000018.9:g.12337563_12337572del , CM000680.1:g.12337563_12337572del	GRCh37
NC_000018.8:g.12327563_12327572del	NCBI36
NG_023361.1:g.44704_44713del , LRG_666:g.44704_44713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-38_*1577-29del (AFG3L2)	ENSP00000508998.1:n.*1577-38_*1577-29del
ENST00000687477.1:n.517-38_517-29del (AFG3L2)
ENST00000688199.1:c.1843-38_1843-29del (AFG3L2)	ENSP00000510237.1:n.1843-38_1843-29del
ENST00000691179.1:c.1906-38_1906-29del (AFG3L2)	ENSP00000509010.1:n.1906-38_1906-29del
ENST00000691970.1:c.*1358-38_*1358-29del (AFG3L2)	ENSP00000508440.1:n.*1358-38_*1358-29del
ENST00000692497.1:c.*411-38_*411-29del (AFG3L2)	ENSP00000509870.1:n.*411-38_*411-29del
ENST00000692988.1:n.1799-38_1799-29del (AFG3L2)
ENST00000269143.8:c.1981-38_1981-29del (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-38_1981-29del
ENST00000269143.7:c.1981-38_1981-29del (AFG3L2)	ENSP00000269143.2:n.1981-38_1981-29del
ENST00000586691.1:c.88-6485_88-6476del (TUBB6)
NM_006796.2:c.1981-38_1981-29del , LRG_666t1:c.1981-38_1981-29del (AFG3L2)	NP_006787.2:n.1981-38_1981-29del
XM_011525601.1:c.1780-38_1780-29del (AFG3L2)	XP_011523903.1:n.1780-38_1780-29del
XM_011525601.3:c.1780-38_1780-29del (AFG3L2)	XP_011523903.1:n.1780-38_1780-29del
XR_002958227.1:n.451+662_451+671del
NM_006796.3:c.1981-38_1981-29del (AFG3L2) MANE Select	NP_006787.2:n.1981-38_1981-29del