Canonical Allele Identifier: CA2641066980

Gene: AFG3L2 TUBB6

Linked Data

• gnomAD v4: 18-12337546-CATA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337549_12337551del , CM000680.2:g.12337549_12337551del	GRCh38
NC_000018.9:g.12337548_12337550del , CM000680.1:g.12337548_12337550del	GRCh37
NC_000018.8:g.12327548_12327550del	NCBI36
NG_023361.1:g.44728_44730del , LRG_666:g.44728_44730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-14_*1577-12del (AFG3L2)	ENSP00000508998.1:n.*1577-14_*1577-12del
ENST00000687477.1:n.517-14_517-12del (AFG3L2)
ENST00000688199.1:c.1843-14_1843-12del (AFG3L2)	ENSP00000510237.1:n.1843-14_1843-12del
ENST00000691179.1:c.1906-14_1906-12del (AFG3L2)	ENSP00000509010.1:n.1906-14_1906-12del
ENST00000691970.1:c.*1358-14_*1358-12del (AFG3L2)	ENSP00000508440.1:n.*1358-14_*1358-12del
ENST00000692497.1:c.*411-14_*411-12del (AFG3L2)	ENSP00000509870.1:n.*411-14_*411-12del
ENST00000692988.1:n.1799-14_1799-12del (AFG3L2)
ENST00000269143.8:c.1981-14_1981-12del (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-14_1981-12del
ENST00000269143.7:c.1981-14_1981-12del (AFG3L2)	ENSP00000269143.2:n.1981-14_1981-12del
ENST00000586691.1:c.88-6500_88-6498del (TUBB6)
NM_006796.2:c.1981-14_1981-12del , LRG_666t1:c.1981-14_1981-12del (AFG3L2)	NP_006787.2:n.1981-14_1981-12del
XM_011525601.1:c.1780-14_1780-12del (AFG3L2)	XP_011523903.1:n.1780-14_1780-12del
XM_011525601.3:c.1780-14_1780-12del (AFG3L2)	XP_011523903.1:n.1780-14_1780-12del
XR_002958227.1:n.451+647_451+649del
NM_006796.3:c.1981-14_1981-12del (AFG3L2) MANE Select	NP_006787.2:n.1981-14_1981-12del