Canonical Allele Identifier: CA2695227462

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337495_12337497del , CM000680.2:g.12337495_12337497del	GRCh38
NC_000018.9:g.12337494_12337496del , CM000680.1:g.12337494_12337496del	GRCh37
NC_000018.8:g.12327494_12327496del	NCBI36
NG_023361.1:g.44782_44784del , LRG_666:g.44782_44784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1617_*1619del (AFG3L2)	ENSP00000508998.1:n.*1617_*1619del
ENST00000687477.1:n.557_559del (AFG3L2)
ENST00000688199.1:c.1883_1885del (AFG3L2)	ENSP00000510237.1:p.Ser628del
ENST00000691179.1:c.1946_1948del (AFG3L2)	ENSP00000509010.1:p.Ser649del
ENST00000691970.1:c.*1398_*1400del (AFG3L2)	ENSP00000508440.1:n.*1398_*1400del
ENST00000692497.1:c.*451_*453del (AFG3L2)	ENSP00000509870.1:n.*451_*453del
ENST00000692988.1:n.1839_1841del (AFG3L2)
ENST00000269143.8:c.2021_2023del (AFG3L2) MANE Select	ENSP00000269143.2:p.Ser674del
ENST00000269143.7:c.2021_2023del (AFG3L2)	ENSP00000269143.2:p.Ser674del
ENST00000586691.1:c.88-6554_88-6552del (TUBB6)
NM_006796.2:c.2021_2023del , LRG_666t1:c.2021_2023del (AFG3L2)	NP_006787.2:p.Ser674del
XM_011525601.1:c.1820_1822del (AFG3L2)	XP_011523903.1:p.Ser607del
XM_011525601.3:c.1820_1822del (AFG3L2)	XP_011523903.1:p.Ser607del
XR_002958227.1:n.451+593_451+595del
NM_006796.3:c.2021_2023del (AFG3L2) MANE Select	NP_006787.2:p.Ser674del