Canonical Allele Identifier: CA2285198721

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337354_12337358delinsGCTTT , CM000680.2:g.12337354_12337358delinsGCTTT	GRCh38
NC_000018.9:g.12337353_12337357delinsGCTTT , CM000680.1:g.12337353_12337357delinsGCTTT	GRCh37
NC_000018.8:g.12327353_12327357delinsGCTTT	NCBI36
NG_023361.1:g.44919_44923delinsAAAGC , LRG_666:g.44919_44923delinsAAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1754_*1758delinsAAAGC (AFG3L2)	ENSP00000508998.1:n.*1754_*1758delinsAAAGC
ENST00000687477.1:n.694_698delinsAAAGC (AFG3L2)
ENST00000688199.1:c.2020_2024delinsAAAGC (AFG3L2)	ENSP00000510237.1:p.Lys674=
ENST00000691179.1:c.2083_2087delinsAAAGC (AFG3L2)	ENSP00000509010.1:p.Lys695=
ENST00000691970.1:c.*1535_*1539delinsAAAGC (AFG3L2)	ENSP00000508440.1:n.*1535_*1539delinsAAAGC
ENST00000692497.1:c.*588_*592delinsAAAGC (AFG3L2)	ENSP00000509870.1:n.*588_*592delinsAAAGC
ENST00000692988.1:n.1976_1980delinsAAAGC (AFG3L2)
ENST00000269143.8:c.2158_2162delinsAAAGC (AFG3L2) MANE Select	ENSP00000269143.2:p.Lys720=
ENST00000269143.7:c.2158_2162delinsAAAGC (AFG3L2)	ENSP00000269143.2:p.Lys720=
ENST00000586691.1:c.88-6695_88-6691delinsGCTTT (TUBB6)
NM_006796.2:c.2158_2162delinsAAAGC , LRG_666t1:c.2158_2162delinsAAAGC (AFG3L2)	NP_006787.2:p.Lys720=
XM_011525601.1:c.1957_1961delinsAAAGC (AFG3L2)	XP_011523903.1:p.Lys653=
XM_011525601.3:c.1957_1961delinsAAAGC (AFG3L2)	XP_011523903.1:p.Lys653=
XR_002958227.1:n.451+452_451+456delinsGCTTT
NM_006796.3:c.2158_2162delinsAAAGC (AFG3L2) MANE Select	NP_006787.2:p.Lys720=