Canonical Allele Identifier: CA2641066977

Gene: AFG3L2 TUBB6

Linked Data

• gnomAD v4: 18-12337475-CCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337476_12337478del , CM000680.2:g.12337476_12337478del	GRCh38
NC_000018.9:g.12337475_12337477del , CM000680.1:g.12337475_12337477del	GRCh37
NC_000018.8:g.12327475_12327477del	NCBI36
NG_023361.1:g.44799_44801del , LRG_666:g.44799_44801del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1634_*1636del (AFG3L2)	ENSP00000508998.1:n.*1634_*1636del
ENST00000687477.1:n.574_576del (AFG3L2)
ENST00000688199.1:c.1900_1902del (AFG3L2)	ENSP00000510237.1:p.Gln634del
ENST00000691179.1:c.1963_1965del (AFG3L2)	ENSP00000509010.1:p.Gln655del
ENST00000691970.1:c.*1415_*1417del (AFG3L2)	ENSP00000508440.1:n.*1415_*1417del
ENST00000692497.1:c.*468_*470del (AFG3L2)	ENSP00000509870.1:n.*468_*470del
ENST00000692988.1:n.1856_1858del (AFG3L2)
ENST00000269143.8:c.2038_2040del (AFG3L2) MANE Select	ENSP00000269143.2:p.Gln680del
ENST00000269143.7:c.2038_2040del (AFG3L2)	ENSP00000269143.2:p.Gln680del
ENST00000586691.1:c.88-6573_88-6571del (TUBB6)
NM_006796.2:c.2038_2040del , LRG_666t1:c.2038_2040del (AFG3L2)	NP_006787.2:p.Gln680del
XM_011525601.1:c.1837_1839del (AFG3L2)	XP_011523903.1:p.Gln613del
XM_011525601.3:c.1837_1839del (AFG3L2)	XP_011523903.1:p.Gln613del
XR_002958227.1:n.451+574_451+576del
NM_006796.3:c.2038_2040del (AFG3L2) MANE Select	NP_006787.2:p.Gln680del