Canonical Allele Identifier: CA2285198940

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337494_12337495delinsGG , CM000680.2:g.12337494_12337495delinsGG	GRCh38
NC_000018.9:g.12337493_12337494delinsGG , CM000680.1:g.12337493_12337494delinsGG	GRCh37
NC_000018.8:g.12327493_12327494delinsGG	NCBI36
NG_023361.1:g.44782_44783delinsCC , LRG_666:g.44782_44783delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1617_*1618delinsCC (AFG3L2)	ENSP00000508998.1:n.*1617_*1618delinsCC
ENST00000687477.1:n.557_558delinsCC (AFG3L2)
ENST00000688199.1:c.1883_1884delinsCC (AFG3L2)	ENSP00000510237.1:p.Ser628=
ENST00000691179.1:c.1946_1947delinsCC (AFG3L2)	ENSP00000509010.1:p.Ser649=
ENST00000691970.1:c.*1398_*1399delinsCC (AFG3L2)	ENSP00000508440.1:n.*1398_*1399delinsCC
ENST00000692497.1:c.*451_*452delinsCC (AFG3L2)	ENSP00000509870.1:n.*451_*452delinsCC
ENST00000692988.1:n.1839_1840delinsCC (AFG3L2)
ENST00000269143.8:c.2021_2022delinsCC (AFG3L2) MANE Select	ENSP00000269143.2:p.Ser674=
ENST00000269143.7:c.2021_2022delinsCC (AFG3L2)	ENSP00000269143.2:p.Ser674=
ENST00000586691.1:c.88-6555_88-6554delinsGG (TUBB6)
NM_006796.2:c.2021_2022delinsCC , LRG_666t1:c.2021_2022delinsCC (AFG3L2)	NP_006787.2:p.Ser674=
XM_011525601.1:c.1820_1821delinsCC (AFG3L2)	XP_011523903.1:p.Ser607=
XM_011525601.3:c.1820_1821delinsCC (AFG3L2)	XP_011523903.1:p.Ser607=
XR_002958227.1:n.451+592_451+593delinsGG
NM_006796.3:c.2021_2022delinsCC (AFG3L2) MANE Select	NP_006787.2:p.Ser674=