Canonical Allele Identifier: CA1979444389

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868463_65868464delinsGC , CM000673.2:g.65868463_65868464delinsGC	GRCh38
NC_000011.9:g.65635934_65635935delinsGC , CM000673.1:g.65635934_65635935delinsGC	GRCh37
NC_000011.8:g.65392510_65392511delinsGC	NCBI36
NG_012304.2:g.9471_9472delinsGC
NG_053116.1:g.13402_13403delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.848-43_848-42delinsGC MANE Select	ENSP00000309953.6:n.848-43_848-42delinsGC
ENST00000307998.10:c.848-43_848-42delinsGC	ENSP00000309953.6:n.848-43_848-42delinsGC
ENST00000526628.5:n.1414-43_1414-42delinsGC
ENST00000528176.5:c.848-43_848-42delinsGC	ENSP00000434151.1:n.848-43_848-42delinsGC
ENST00000528409.1:n.49_50delinsGC
ENST00000530806.5:c.-151-43_-151-42delinsGC	ENSP00000436526.1:n.-151-43_-151-42delinsGC
ENST00000531005.5:n.1842-43_1842-42delinsGC
ENST00000531972.5:c.848-43_848-42delinsGC	ENSP00000435295.1:n.848-43_848-42delinsGC
ENST00000532084.5:n.274-43_274-42delinsGC
NM_016938.4:c.848-43_848-42delinsGC	NP_058634.4:n.848-43_848-42delinsGC
NR_037718.1:n.1107-43_1107-42delinsGC
NM_016938.5:c.848-43_848-42delinsGC MANE Select	NP_058634.4:n.848-43_848-42delinsGC
NR_037718.2:n.973-43_973-42delinsGC