Canonical Allele Identifier: CA2641068932

Gene: AFG3L2

Linked Data

• gnomAD v4: 18-12350992-AGAAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12350996_12351000del , CM000680.2:g.12350996_12351000del	GRCh38
NC_000018.9:g.12350995_12350999del , CM000680.1:g.12350995_12350999del	GRCh37
NC_000018.8:g.12340995_12340999del	NCBI36
NG_023361.1:g.31280_31284del , LRG_666:g.31280_31284del

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1148+88_*1148+92del	ENSP00000508998.1:n.*1148+88_*1148+92del
ENST00000688199.1:c.1414+88_1414+92del	ENSP00000510237.1:n.1414+88_1414+92del
ENST00000691179.1:c.1477+88_1477+92del	ENSP00000509010.1:n.1477+88_1477+92del
ENST00000691970.1:c.*929+88_*929+92del	ENSP00000508440.1:n.*929+88_*929+92del
ENST00000692497.1:c.1552+88_1552+92del	ENSP00000509870.1:n.1552+88_1552+92del
ENST00000692988.1:n.1370+88_1370+92del
ENST00000269143.8:c.1552+88_1552+92del MANE Select	ENSP00000269143.2:n.1552+88_1552+92del
ENST00000269143.7:c.1552+88_1552+92del	ENSP00000269143.2:n.1552+88_1552+92del
NM_006796.2:c.1552+88_1552+92del , LRG_666t1:c.1552+88_1552+92del	NP_006787.2:n.1552+88_1552+92del
XM_011525601.1:c.1552+88_1552+92del	XP_011523903.1:n.1552+88_1552+92del
XM_011525601.3:c.1552+88_1552+92del	XP_011523903.1:n.1552+88_1552+92del
NM_006796.3:c.1552+88_1552+92del MANE Select	NP_006787.2:n.1552+88_1552+92del