Canonical Allele Identifier: CA2576459015

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337490del , CM000680.2:g.12337490del	GRCh38
NC_000018.9:g.12337489del , CM000680.1:g.12337489del	GRCh37
NC_000018.8:g.12327489del	NCBI36
NG_023361.1:g.44787del , LRG_666:g.44787del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1622del (AFG3L2)	ENSP00000508998.1:n.*1622del
ENST00000687477.1:n.562del (AFG3L2)
ENST00000688199.1:c.1888del (AFG3L2)	ENSP00000510237.1:p.Asp630ThrfsTer21
ENST00000691179.1:c.1951del (AFG3L2)	ENSP00000509010.1:p.Asp651ThrfsTer21
ENST00000691970.1:c.*1403del (AFG3L2)	ENSP00000508440.1:n.*1403del
ENST00000692497.1:c.*456del (AFG3L2)	ENSP00000509870.1:n.*456del
ENST00000692988.1:n.1844del (AFG3L2)
ENST00000269143.8:c.2026del (AFG3L2) MANE Select	ENSP00000269143.2:p.Asp676ThrfsTer21
ENST00000269143.7:c.2026del (AFG3L2)	ENSP00000269143.2:p.Asp676ThrfsTer21
ENST00000586691.1:c.88-6559del (TUBB6)
NM_006796.2:c.2026del , LRG_666t1:c.2026del (AFG3L2)	NP_006787.2:p.Asp676ThrfsTer21
XM_011525601.1:c.1825del (AFG3L2)	XP_011523903.1:p.Asp609ThrfsTer21
XM_011525601.3:c.1825del (AFG3L2)	XP_011523903.1:p.Asp609ThrfsTer21
XR_002958227.1:n.451+588del
NM_006796.3:c.2026del (AFG3L2) MANE Select	NP_006787.2:p.Asp676ThrfsTer21