Canonical Allele Identifier: CA2614405919

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65868652-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868656del , CM000673.2:g.65868656del	GRCh38
NC_000011.9:g.65636127del , CM000673.1:g.65636127del	GRCh37
NC_000011.8:g.65392703del	NCBI36
NG_012304.2:g.9282del
NG_053116.1:g.13595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-24del MANE Select	ENSP00000309953.6:n.728-24del
ENST00000307998.10:c.728-24del	ENSP00000309953.6:n.728-24del
ENST00000526628.5:n.1270del
ENST00000527969.1:n.1389del
ENST00000528176.5:c.728-24del	ENSP00000434151.1:n.728-24del
ENST00000531005.5:n.1722-24del
ENST00000531972.5:c.728-24del	ENSP00000435295.1:n.728-24del
ENST00000532084.5:n.154-24del
NM_016938.4:c.728-24del	NP_058634.4:n.728-24del
NR_037718.1:n.987-24del
NM_016938.5:c.728-24del MANE Select	NP_058634.4:n.728-24del
NR_037718.2:n.853-24del