Canonical Allele Identifier: CA1979444931

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868619_65868622delinsCTCA , CM000673.2:g.65868619_65868622delinsCTCA	GRCh38
NC_000011.9:g.65636090_65636093delinsCTCA , CM000673.1:g.65636090_65636093delinsCTCA	GRCh37
NC_000011.8:g.65392666_65392669delinsCTCA	NCBI36
NG_012304.2:g.9313_9316delinsTGAG
NG_053116.1:g.13558_13561delinsCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.735_738delinsTGAG MANE Select	ENSP00000309953.6:p.Asp245=
ENST00000307998.10:c.735_738delinsTGAG	ENSP00000309953.6:p.Asp245=
ENST00000526628.5:n.1301_1304delinsTGAG
ENST00000527969.1:n.1420_1423delinsTGAG
ENST00000528176.5:c.735_738delinsTGAG	ENSP00000434151.1:p.Asp245=
ENST00000531005.5:n.1729_1732delinsTGAG
ENST00000531972.5:c.735_738delinsTGAG	ENSP00000435295.1:p.Asp245=
ENST00000532084.5:n.161_164delinsTGAG
NM_016938.4:c.735_738delinsTGAG	NP_058634.4:p.Asp245=
NR_037718.1:n.994_997delinsTGAG
NM_016938.5:c.735_738delinsTGAG MANE Select	NP_058634.4:p.Asp245=
NR_037718.2:n.860_863delinsTGAG