Canonical Allele Identifier: CA308240594

Gene: TIMM50

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.39487982_39487985del , CM000681.2:g.39487982_39487985del	GRCh38
NC_000019.9:g.39978622_39978625del , CM000681.1:g.39978622_39978625del	GRCh37
NC_000019.8:g.44670462_44670465del	NCBI36
NG_051245.1:g.12571_12574del

Transcript Alleles

HGVS	Amino-acid Change
NM_001001563.5:c.697-79_697-76del MANE Select	NP_001001563.2:n.697-79_697-76del
ENST00000607714.6:c.697-79_697-76del MANE Select	ENSP00000475531.1:n.697-79_697-76del
NM_001001563.1:c.1006-79_1006-76del	NP_001001563.1:n.1006-79_1006-76del
NM_001001563.4:c.697-79_697-76del	NP_001001563.2:n.697-79_697-76del
NM_001329559.1:c.358-79_358-76del	NP_001316488.1:n.358-79_358-76del
NM_001329559.2:c.358-79_358-76del	NP_001316488.1:n.358-79_358-76del
ENST00000314349.8:c.1006-79_1006-76del	ENSP00000318115.3:n.1006-79_1006-76del
ENST00000544017.5:c.1006-79_1006-76del	ENSP00000445806.2:n.1006-79_1006-76del
ENST00000595961.5:n.801-79_801-76del
ENST00000597666.5:c.487-79_487-76del	ENSP00000472723.2:n.487-79_487-76del
ENST00000599794.5:c.109-79_109-76del	ENSP00000472524.2:n.109-79_109-76del
ENST00000601358.5:c.*212-79_*212-76del	ENSP00000472476.2:n.*212-79_*212-76del
ENST00000601403.5:c.643-79_643-76del	ENSP00000472184.2:n.643-79_643-76del
ENST00000602028.5:c.614-79_614-76del
ENST00000602265.5:c.564-79_564-76del
ENST00000607714.5:c.697-79_697-76del	ENSP00000475531.1:n.697-79_697-76del
XM_011527491.1:c.661-79_661-76del	XP_011525793.1:n.661-79_661-76del
XM_011527491.3:c.661-79_661-76del	XP_011525793.1:n.661-79_661-76del