Canonical Allele Identifier: CA1979444273

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868448_65868451delinsCGGG , CM000673.2:g.65868448_65868451delinsCGGG	GRCh38
NC_000011.9:g.65635919_65635922delinsCGGG , CM000673.1:g.65635919_65635922delinsCGGG	GRCh37
NC_000011.8:g.65392495_65392498delinsCGGG	NCBI36
NG_012304.2:g.9484_9487delinsCCCG
NG_053116.1:g.13387_13390delinsCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.848-30_848-27delinsCCCG MANE Select	ENSP00000309953.6:n.848-30_848-27delinsCCCG
ENST00000307998.10:c.848-30_848-27delinsCCCG	ENSP00000309953.6:n.848-30_848-27delinsCCCG
ENST00000526628.5:n.1414-30_1414-27delinsCCCG
ENST00000528176.5:c.848-30_848-27delinsCCCG	ENSP00000434151.1:n.848-30_848-27delinsCCCG
ENST00000528409.1:n.62_65delinsCCCG
ENST00000530806.5:c.-151-30_-151-27delinsCCCG	ENSP00000436526.1:n.-151-30_-151-27delinsCCCG
ENST00000531005.5:n.1842-30_1842-27delinsCCCG
ENST00000531972.5:c.848-30_848-27delinsCCCG	ENSP00000435295.1:n.848-30_848-27delinsCCCG
ENST00000532084.5:n.274-30_274-27delinsCCCG
NM_016938.4:c.848-30_848-27delinsCCCG	NP_058634.4:n.848-30_848-27delinsCCCG
NR_037718.1:n.1107-30_1107-27delinsCCCG
NM_016938.5:c.848-30_848-27delinsCCCG MANE Select	NP_058634.4:n.848-30_848-27delinsCCCG
NR_037718.2:n.973-30_973-27delinsCCCG