Canonical Allele Identifier: CA2811004253

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337682_12337683insAG , CM000680.2:g.12337682_12337683insAG	GRCh38
NC_000018.9:g.12337681_12337682insAG , CM000680.1:g.12337681_12337682insAG	GRCh37
NC_000018.8:g.12327681_12327682insAG	NCBI36
NG_023361.1:g.44594_44595insCT , LRG_666:g.44594_44595insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-148_*1577-147insCT (AFG3L2)	ENSP00000508998.1:n.*1577-148_*1577-147insCT
ENST00000687477.1:n.517-148_517-147insCT (AFG3L2)
ENST00000688199.1:c.1843-148_1843-147insCT (AFG3L2)	ENSP00000510237.1:n.1843-148_1843-147insCT
ENST00000691179.1:c.1906-148_1906-147insCT (AFG3L2)	ENSP00000509010.1:n.1906-148_1906-147insCT
ENST00000691970.1:c.*1358-148_*1358-147insCT (AFG3L2)	ENSP00000508440.1:n.*1358-148_*1358-147insCT
ENST00000692497.1:c.*411-148_*411-147insCT (AFG3L2)	ENSP00000509870.1:n.*411-148_*411-147insCT
ENST00000692988.1:n.1799-148_1799-147insCT (AFG3L2)
ENST00000269143.8:c.1981-148_1981-147insCT (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-148_1981-147insCT
ENST00000269143.7:c.1981-148_1981-147insCT (AFG3L2)	ENSP00000269143.2:n.1981-148_1981-147insCT
ENST00000586691.1:c.88-6367_88-6366insAG (TUBB6)
NM_006796.2:c.1981-148_1981-147insCT , LRG_666t1:c.1981-148_1981-147insCT (AFG3L2)	NP_006787.2:n.1981-148_1981-147insCT
XM_011525601.1:c.1780-148_1780-147insCT (AFG3L2)	XP_011523903.1:n.1780-148_1780-147insCT
XM_011525601.3:c.1780-148_1780-147insCT (AFG3L2)	XP_011523903.1:n.1780-148_1780-147insCT
XR_002958227.1:n.451+780_451+781insAG
NM_006796.3:c.1981-148_1981-147insCT (AFG3L2) MANE Select	NP_006787.2:n.1981-148_1981-147insCT