Canonical Allele Identifier: CA2641066978

Gene: AFG3L2 TUBB6

Linked Data

• gnomAD v4: 18-12337503-CCCAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337506_12337509del , CM000680.2:g.12337506_12337509del	GRCh38
NC_000018.9:g.12337505_12337508del , CM000680.1:g.12337505_12337508del	GRCh37
NC_000018.8:g.12327505_12327508del	NCBI36
NG_023361.1:g.44770_44773del , LRG_666:g.44770_44773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1605_*1608del (AFG3L2)	ENSP00000508998.1:n.*1605_*1608del
ENST00000687477.1:n.545_548del (AFG3L2)
ENST00000688199.1:c.1871_1874del (AFG3L2)	ENSP00000510237.1:p.Val624GlyfsTer26
ENST00000691179.1:c.1934_1937del (AFG3L2)	ENSP00000509010.1:p.Val645GlyfsTer26
ENST00000691970.1:c.*1386_*1389del (AFG3L2)	ENSP00000508440.1:n.*1386_*1389del
ENST00000692497.1:c.*439_*442del (AFG3L2)	ENSP00000509870.1:n.*439_*442del
ENST00000692988.1:n.1827_1830del (AFG3L2)
ENST00000269143.8:c.2009_2012del (AFG3L2) MANE Select	ENSP00000269143.2:p.Val670GlyfsTer26
ENST00000269143.7:c.2009_2012del (AFG3L2)	ENSP00000269143.2:p.Val670GlyfsTer26
ENST00000586691.1:c.88-6543_88-6540del (TUBB6)
NM_006796.2:c.2009_2012del , LRG_666t1:c.2009_2012del (AFG3L2)	NP_006787.2:p.Val670GlyfsTer26
XM_011525601.1:c.1808_1811del (AFG3L2)	XP_011523903.1:p.Val603GlyfsTer26
XM_011525601.3:c.1808_1811del (AFG3L2)	XP_011523903.1:p.Val603GlyfsTer26
XR_002958227.1:n.451+604_451+607del
NM_006796.3:c.2009_2012del (AFG3L2) MANE Select	NP_006787.2:p.Val670GlyfsTer26