Canonical Allele Identifier: CA2641066974

Gene: AFG3L2 TUBB6

Linked Data

• gnomAD v4: 18-12337367-TGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337368_12337370del , CM000680.2:g.12337368_12337370del	GRCh38
NC_000018.9:g.12337367_12337369del , CM000680.1:g.12337367_12337369del	GRCh37
NC_000018.8:g.12327367_12327369del	NCBI36
NG_023361.1:g.44907_44909del , LRG_666:g.44907_44909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1742_*1744del (AFG3L2)	ENSP00000508998.1:n.*1742_*1744del
ENST00000687477.1:n.682_684del (AFG3L2)
ENST00000688199.1:c.2008_2010del (AFG3L2)	ENSP00000510237.1:p.Leu670del
ENST00000691179.1:c.2071_2073del (AFG3L2)	ENSP00000509010.1:p.Leu691del
ENST00000691970.1:c.*1523_*1525del (AFG3L2)	ENSP00000508440.1:n.*1523_*1525del
ENST00000692497.1:c.*576_*578del (AFG3L2)	ENSP00000509870.1:n.*576_*578del
ENST00000692988.1:n.1964_1966del (AFG3L2)
ENST00000269143.8:c.2146_2148del (AFG3L2) MANE Select	ENSP00000269143.2:p.Leu716del
ENST00000269143.7:c.2146_2148del (AFG3L2)	ENSP00000269143.2:p.Leu716del
ENST00000586691.1:c.88-6681_88-6679del (TUBB6)
NM_006796.2:c.2146_2148del , LRG_666t1:c.2146_2148del (AFG3L2)	NP_006787.2:p.Leu716del
XM_011525601.1:c.1945_1947del (AFG3L2)	XP_011523903.1:p.Leu649del
XM_011525601.3:c.1945_1947del (AFG3L2)	XP_011523903.1:p.Leu649del
XR_002958227.1:n.451+466_451+468del
NM_006796.3:c.2146_2148del (AFG3L2) MANE Select	NP_006787.2:p.Leu716del