Canonical Allele Identifier: CA2285198824

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337416_12337419delinsTTCA , CM000680.2:g.12337416_12337419delinsTTCA	GRCh38
NC_000018.9:g.12337415_12337418delinsTTCA , CM000680.1:g.12337415_12337418delinsTTCA	GRCh37
NC_000018.8:g.12327415_12327418delinsTTCA	NCBI36
NG_023361.1:g.44858_44861delinsTGAA , LRG_666:g.44858_44861delinsTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1693_*1696delinsTGAA (AFG3L2)	ENSP00000508998.1:n.*1693_*1696delinsTGAA
ENST00000687477.1:n.633_636delinsTGAA (AFG3L2)
ENST00000688199.1:c.1959_1962delinsTGAA (AFG3L2)	ENSP00000510237.1:p.Asp653=
ENST00000691179.1:c.2022_2025delinsTGAA (AFG3L2)	ENSP00000509010.1:p.Asp674=
ENST00000691970.1:c.*1474_*1477delinsTGAA (AFG3L2)	ENSP00000508440.1:n.*1474_*1477delinsTGAA
ENST00000692497.1:c.*527_*530delinsTGAA (AFG3L2)	ENSP00000509870.1:n.*527_*530delinsTGAA
ENST00000692988.1:n.1915_1918delinsTGAA (AFG3L2)
ENST00000269143.8:c.2097_2100delinsTGAA (AFG3L2) MANE Select	ENSP00000269143.2:p.Asp699=
ENST00000269143.7:c.2097_2100delinsTGAA (AFG3L2)	ENSP00000269143.2:p.Asp699=
ENST00000586691.1:c.88-6633_88-6630delinsTTCA (TUBB6)
NM_006796.2:c.2097_2100delinsTGAA , LRG_666t1:c.2097_2100delinsTGAA (AFG3L2)	NP_006787.2:p.Asp699=
XM_011525601.1:c.1896_1899delinsTGAA (AFG3L2)	XP_011523903.1:p.Asp632=
XM_011525601.3:c.1896_1899delinsTGAA (AFG3L2)	XP_011523903.1:p.Asp632=
XR_002958227.1:n.451+514_451+517delinsTTCA
NM_006796.3:c.2097_2100delinsTGAA (AFG3L2) MANE Select	NP_006787.2:p.Asp699=