Canonical Allele Identifier: CA2811004258

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337721_12337722insAGA , CM000680.2:g.12337721_12337722insAGA	GRCh38
NC_000018.9:g.12337720_12337721insAGA , CM000680.1:g.12337720_12337721insAGA	GRCh37
NC_000018.8:g.12327720_12327721insAGA	NCBI36
NG_023361.1:g.44555_44556insTCT , LRG_666:g.44555_44556insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-187_*1577-186insTCT (AFG3L2)	ENSP00000508998.1:n.*1577-187_*1577-186insTCT
ENST00000687477.1:n.517-187_517-186insTCT (AFG3L2)
ENST00000688199.1:c.1843-187_1843-186insTCT (AFG3L2)	ENSP00000510237.1:n.1843-187_1843-186insTCT
ENST00000691179.1:c.1906-187_1906-186insTCT (AFG3L2)	ENSP00000509010.1:n.1906-187_1906-186insTCT
ENST00000691970.1:c.*1358-187_*1358-186insTCT (AFG3L2)	ENSP00000508440.1:n.*1358-187_*1358-186insTCT
ENST00000692497.1:c.*411-187_*411-186insTCT (AFG3L2)	ENSP00000509870.1:n.*411-187_*411-186insTCT
ENST00000692988.1:n.1799-187_1799-186insTCT (AFG3L2)
ENST00000269143.8:c.1981-187_1981-186insTCT (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-187_1981-186insTCT
ENST00000269143.7:c.1981-187_1981-186insTCT (AFG3L2)	ENSP00000269143.2:n.1981-187_1981-186insTCT
ENST00000586691.1:c.88-6328_88-6327insAGA (TUBB6)
NM_006796.2:c.1981-187_1981-186insTCT , LRG_666t1:c.1981-187_1981-186insTCT (AFG3L2)	NP_006787.2:n.1981-187_1981-186insTCT
XM_011525601.1:c.1780-187_1780-186insTCT (AFG3L2)	XP_011523903.1:n.1780-187_1780-186insTCT
XM_011525601.3:c.1780-187_1780-186insTCT (AFG3L2)	XP_011523903.1:n.1780-187_1780-186insTCT
XR_002958227.1:n.451+819_451+820insAGA
NM_006796.3:c.1981-187_1981-186insTCT (AFG3L2) MANE Select	NP_006787.2:n.1981-187_1981-186insTCT