Canonical Allele Identifier: CA915944028

Gene: EFEMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55917861_55917865del , CM000664.2:g.55917861_55917865del	GRCh38
NC_000002.11:g.56144996_56145000del , CM000664.1:g.56144996_56145000del	GRCh37
NC_000002.10:g.55998500_55998504del	NCBI36
NG_009098.1:g.10936_10940del

Transcript Alleles

HGVS	Amino-acid Change
NM_001039348.3:c.320_324del MANE Select	NP_001034437.1:p.Met107AsnfsTer21
ENST00000355426.8:c.320_324del MANE Select	ENSP00000347596.3:p.Met107AsnfsTer21
NM_001039348.2:c.320_324del	NP_001034437.1:p.Met107AsnfsTer21
NM_001039349.2:c.320_324del	NP_001034438.1:p.Met107AsnfsTer21
NM_001039349.3:c.320_324del	NP_001034438.1:p.Met107AsnfsTer21
ENST00000355426.7:c.320_324del	ENSP00000347596.3:p.Met107AsnfsTer21
ENST00000394555.6:c.320_324del	ENSP00000378058.2:p.Met107AsnfsTer21
ENST00000438672.5:c.320_324del	ENSP00000392055.1:p.Met107AsnfsTer21
ENST00000439193.5:c.320_324del	ENSP00000408195.1:p.Met107AsnfsTer?
ENST00000452161.5:n.426_430del
ENST00000635671.1:c.*212_*216del	ENSP00000489578.1:n.*212_*216del
XM_005264205.3:c.710_714del	XP_005264262.1:p.Met237AsnfsTer21
XM_005264205.4:c.710_714del	XP_005264262.1:p.Met237AsnfsTer21
XM_017003586.2:c.320_324del	XP_016859075.1:p.Met107AsnfsTer21
XM_024452755.1:c.320_324del	XP_024308523.1:p.Met107AsnfsTer21
XM_024452756.1:c.320_324del	XP_024308524.1:p.Met107AsnfsTer21
XM_024452757.1:c.320_324del	XP_024308525.1:p.Met107AsnfsTer21