Canonical Allele Identifier: CA1979444427

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868467_65868470delinsGCTC , CM000673.2:g.65868467_65868470delinsGCTC	GRCh38
NC_000011.9:g.65635938_65635941delinsGCTC , CM000673.1:g.65635938_65635941delinsGCTC	GRCh37
NC_000011.8:g.65392514_65392517delinsGCTC	NCBI36
NG_012304.2:g.9465_9468delinsGAGC
NG_053116.1:g.13406_13409delinsGCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.847+40_847+43delinsGAGC MANE Select	ENSP00000309953.6:n.847+40_847+43delinsGAGC
ENST00000307998.10:c.847+40_847+43delinsGAGC	ENSP00000309953.6:n.847+40_847+43delinsGAGC
ENST00000526628.5:n.1413+40_1413+43delinsGAGC
ENST00000528176.5:c.847+40_847+43delinsGAGC	ENSP00000434151.1:n.847+40_847+43delinsGAGC
ENST00000528409.1:n.43_46delinsGAGC
ENST00000530806.5:c.-152+40_-152+43delinsGAGC	ENSP00000436526.1:n.-152+40_-152+43delinsGAGC
ENST00000531005.5:n.1841+40_1841+43delinsGAGC
ENST00000531972.5:c.847+40_847+43delinsGAGC	ENSP00000435295.1:n.847+40_847+43delinsGAGC
ENST00000532084.5:n.273+40_273+43delinsGAGC
NM_016938.4:c.847+40_847+43delinsGAGC	NP_058634.4:n.847+40_847+43delinsGAGC
NR_037718.1:n.1106+40_1106+43delinsGAGC
NM_016938.5:c.847+40_847+43delinsGAGC MANE Select	NP_058634.4:n.847+40_847+43delinsGAGC
NR_037718.2:n.972+40_972+43delinsGAGC