Canonical Allele Identifier: CA1979445067

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871355_65871358delinsCGTT , CM000673.2:g.65871355_65871358delinsCGTT	GRCh38
NC_000011.9:g.65638826_65638829delinsCGTT , CM000673.1:g.65638826_65638829delinsCGTT	GRCh37
NC_000011.8:g.65395402_65395405delinsCGTT	NCBI36
NG_012304.2:g.6577_6580delinsAACG

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.166_169delinsAACG MANE Select	ENSP00000309953.6:p.Asn56=
ENST00000307998.10:c.166_169delinsAACG	ENSP00000309953.6:p.Asn56=
ENST00000526624.5:c.166_169delinsAACG	ENSP00000435419.1:p.Asn56=
ENST00000527378.1:c.166_169delinsAACG	ENSP00000435963.1:p.Asn56=
ENST00000528176.5:c.166_169delinsAACG	ENSP00000434151.1:p.Asn56=
ENST00000530850.1:c.155_158delinsAACG	ENSP00000437238.1:p.Gln52=
ENST00000531005.5:n.662_665delinsAACG
ENST00000531972.5:c.166_169delinsAACG	ENSP00000435295.1:p.Asn56=
ENST00000533347.5:c.212_215delinsAACG	ENSP00000435823.1:p.Gln71=
NM_016938.4:c.166_169delinsAACG	NP_058634.4:p.Asn56=
NR_037718.1:n.425_428delinsAACG
NM_016938.5:c.166_169delinsAACG MANE Select	NP_058634.4:p.Asn56=
NR_037718.2:n.291_294delinsAACG