Canonical Allele Identifier: CA2285199136

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337323_12337333delinsCCCACAACTGG , CM000680.2:g.12337323_12337333delinsCCCACAACTGG	GRCh38
NC_000018.9:g.12337322_12337332delinsCCCACAACTGG , CM000680.1:g.12337322_12337332delinsCCCACAACTGG	GRCh37
NC_000018.8:g.12327322_12327332delinsCCCACAACTGG	NCBI36
NG_023361.1:g.44944_44954delinsCCAGTTGTGGG , LRG_666:g.44944_44954delinsCCAGTTGTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1771+8_*1771+18delinsCCAGTTGTGGG (AFG3L2)	ENSP00000508998.1:n.*1771+8_*1771+18delinsCCAGTTGTGGG
ENST00000687477.1:n.711+8_711+18delinsCCAGTTGTGGG (AFG3L2)
ENST00000688199.1:c.2037+8_2037+18delinsCCAGTTGTGGG (AFG3L2)	ENSP00000510237.1:n.2037+8_2037+18delinsCCAGTTGTGGG
ENST00000691179.1:c.2100+8_2100+18delinsCCAGTTGTGGG (AFG3L2)	ENSP00000509010.1:n.2100+8_2100+18delinsCCAGTTGTGGG
ENST00000691970.1:c.*1552+8_*1552+18delinsCCAGTTGTGGG (AFG3L2)	ENSP00000508440.1:n.*1552+8_*1552+18delinsCCAGTTGTGGG
ENST00000692497.1:c.*605+8_*605+18delinsCCAGTTGTGGG (AFG3L2)	ENSP00000509870.1:n.*605+8_*605+18delinsCCAGTTGTGGG
ENST00000692988.1:n.1993+8_1993+18delinsCCAGTTGTGGG (AFG3L2)
ENST00000269143.8:c.2175+8_2175+18delinsCCAGTTGTGGG (AFG3L2) MANE Select	ENSP00000269143.2:n.2175+8_2175+18delinsCCAGTTGTGGG
ENST00000269143.7:c.2175+8_2175+18delinsCCAGTTGTGGG (AFG3L2)	ENSP00000269143.2:n.2175+8_2175+18delinsCCAGTTGTGGG
ENST00000586691.1:c.88-6726_88-6716delinsCCCACAACTGG (TUBB6)
NM_006796.2:c.2175+8_2175+18delinsCCAGTTGTGGG , LRG_666t1:c.2175+8_2175+18delinsCCAGTTGTGGG (AFG3L2)	NP_006787.2:n.2175+8_2175+18delinsCCAGTTGTGGG
XM_011525601.1:c.1974+8_1974+18delinsCCAGTTGTGGG (AFG3L2)	XP_011523903.1:n.1974+8_1974+18delinsCCAGTTGTGGG
XM_011525601.3:c.1974+8_1974+18delinsCCAGTTGTGGG (AFG3L2)	XP_011523903.1:n.1974+8_1974+18delinsCCAGTTGTGGG
XR_002958227.1:n.451+421_451+431delinsCCCACAACTGG
NM_006796.3:c.2175+8_2175+18delinsCCAGTTGTGGG (AFG3L2) MANE Select	NP_006787.2:n.2175+8_2175+18delinsCCAGTTGTGGG