Canonical Allele Identifier: CA6110502

Gene: EFEMP2

Linked Data

• dbSNP Id: rs765815867
• ExAC: 11:65635919 CGGG / C
• gnomAD v2: 11-65635919-CGGG-C
• gnomAD v4: 11-65868448-CGGG-C
• MyVariant Identifiers: chr11:g.65635920_65635922del (hg19) ; chr11:g.65868449_65868451del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868451_65868453del , CM000673.2:g.65868451_65868453del	GRCh38
NC_000011.9:g.65635922_65635924del , CM000673.1:g.65635922_65635924del	GRCh37
NC_000011.8:g.65392498_65392500del	NCBI36
NG_012304.2:g.9484_9486del
NG_053116.1:g.13390_13392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.848-30_848-28del MANE Select	ENSP00000309953.6:n.848-30_848-28del
ENST00000307998.10:c.848-30_848-28del	ENSP00000309953.6:n.848-30_848-28del
ENST00000526628.5:n.1414-30_1414-28del
ENST00000528176.5:c.848-30_848-28del	ENSP00000434151.1:n.848-30_848-28del
ENST00000528409.1:n.62_64del
ENST00000530806.5:c.-151-30_-151-28del	ENSP00000436526.1:n.-151-30_-151-28del
ENST00000531005.5:n.1842-30_1842-28del
ENST00000531972.5:c.848-30_848-28del	ENSP00000435295.1:n.848-30_848-28del
ENST00000532084.5:n.274-30_274-28del
NM_016938.4:c.848-30_848-28del	NP_058634.4:n.848-30_848-28del
NR_037718.1:n.1107-30_1107-28del
NM_016938.5:c.848-30_848-28del MANE Select	NP_058634.4:n.848-30_848-28del
NR_037718.2:n.973-30_973-28del