Canonical Allele Identifier: CA2641069525

Gene: AFG3L2

Linked Data

• gnomAD v4: 18-12358741-C-CTAG

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12358742_12358744dup , CM000680.2:g.12358742_12358744dup	GRCh38
NC_000018.9:g.12358741_12358743dup , CM000680.1:g.12358741_12358743dup	GRCh37
NC_000018.8:g.12348741_12348743dup	NCBI36
NG_023361.1:g.23533_23535dup , LRG_666:g.23533_23535dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*548_*550dup	ENSP00000508998.1:n.*548_*550dup
ENST00000688199.1:c.952_954dup	ENSP00000510237.1:p.Leu318_Glu319insLeu
ENST00000691179.1:c.877_879dup	ENSP00000509010.1:p.Leu293_Glu294insLeu
ENST00000691970.1:c.*329_*331dup	ENSP00000508440.1:n.*329_*331dup
ENST00000692497.1:c.952_954dup	ENSP00000509870.1:p.Leu318_Glu319insLeu
ENST00000692988.1:n.770_772dup
ENST00000269143.8:c.952_954dup MANE Select	ENSP00000269143.2:p.Leu318_Glu319insLeu
ENST00000269143.7:c.952_954dup	ENSP00000269143.2:p.Leu318_Glu319insLeu
ENST00000590811.1:c.587_589dup
NM_006796.2:c.952_954dup , LRG_666t1:c.952_954dup	NP_006787.2:p.Leu318_Glu319insLeu
XM_011525601.1:c.952_954dup	XP_011523903.1:p.Leu318_Glu319insLeu
XM_011525601.3:c.952_954dup	XP_011523903.1:p.Leu318_Glu319insLeu
NM_006796.3:c.952_954dup MANE Select	NP_006787.2:p.Leu318_Glu319insLeu