Canonical Allele Identifier: CA2554862707

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337584_12337585insCC , CM000680.2:g.12337584_12337585insCC	GRCh38
NC_000018.9:g.12337583_12337584insCC , CM000680.1:g.12337583_12337584insCC	GRCh37
NC_000018.8:g.12327583_12327584insCC	NCBI36
NG_023361.1:g.44692_44693insGG , LRG_666:g.44692_44693insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-50_*1577-49insGG (AFG3L2)	ENSP00000508998.1:n.*1577-50_*1577-49insGG
ENST00000687477.1:n.517-50_517-49insGG (AFG3L2)
ENST00000688199.1:c.1843-50_1843-49insGG (AFG3L2)	ENSP00000510237.1:n.1843-50_1843-49insGG
ENST00000691179.1:c.1906-50_1906-49insGG (AFG3L2)	ENSP00000509010.1:n.1906-50_1906-49insGG
ENST00000691970.1:c.*1358-50_*1358-49insGG (AFG3L2)	ENSP00000508440.1:n.*1358-50_*1358-49insGG
ENST00000692497.1:c.*411-50_*411-49insGG (AFG3L2)	ENSP00000509870.1:n.*411-50_*411-49insGG
ENST00000692988.1:n.1799-50_1799-49insGG (AFG3L2)
ENST00000269143.8:c.1981-50_1981-49insGG (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-50_1981-49insGG
ENST00000269143.7:c.1981-50_1981-49insGG (AFG3L2)	ENSP00000269143.2:n.1981-50_1981-49insGG
ENST00000586691.1:c.88-6465_88-6464insCC (TUBB6)
NM_006796.2:c.1981-50_1981-49insGG , LRG_666t1:c.1981-50_1981-49insGG (AFG3L2)	NP_006787.2:n.1981-50_1981-49insGG
XM_011525601.1:c.1780-50_1780-49insGG (AFG3L2)	XP_011523903.1:n.1780-50_1780-49insGG
XM_011525601.3:c.1780-50_1780-49insGG (AFG3L2)	XP_011523903.1:n.1780-50_1780-49insGG
XR_002958227.1:n.451+682_451+683insCC
NM_006796.3:c.1981-50_1981-49insGG (AFG3L2) MANE Select	NP_006787.2:n.1981-50_1981-49insGG