Canonical Allele Identifier: CA2962578666

Gene: MEGF8

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.42353955del , CM000681.2:g.42353955del	GRCh38
NC_000019.9:g.42858107del , CM000681.1:g.42858107del	GRCh37
NC_000019.8:g.47549947del	NCBI36
NG_033030.1:g.33347del

Transcript Alleles

HGVS	Amino-acid Change
NM_001271938.2:c.3942del MANE Select	NP_001258867.1:p.Cys1315ValfsTer24
ENST00000251268.11:c.3942del MANE Select	ENSP00000251268.5:p.Cys1315ValfsTer24
NM_001271938.1:c.3942del	NP_001258867.1:p.Cys1315ValfsTer24
NM_001410.2:c.3741del	NP_001401.2:p.Cys1248ValfsTer24
NM_001410.3:c.3741del	NP_001401.2:p.Cys1248ValfsTer24
ENST00000251268.10:c.3942del	ENSP00000251268.5:p.Cys1315ValfsTer24
ENST00000334370.8:c.3741del	ENSP00000334219.4:p.Cys1248ValfsTer24
ENST00000378073.5:c.-3144del	ENSP00000367313.4:n.-3144del