Canonical Allele Identifier: CA2614405877

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65868623-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868624del , CM000673.2:g.65868624del	GRCh38
NC_000011.9:g.65636095del , CM000673.1:g.65636095del	GRCh37
NC_000011.8:g.65392671del	NCBI36
NG_012304.2:g.9311del
NG_053116.1:g.13563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.733del MANE Select	ENSP00000309953.6:p.Asp245MetfsTer?
ENST00000307998.10:c.733del	ENSP00000309953.6:p.Asp245MetfsTer?
ENST00000526628.5:n.1299del
ENST00000527969.1:n.1418del
ENST00000528176.5:c.733del	ENSP00000434151.1:p.Asp245MetfsTer?
ENST00000531005.5:n.1727del
ENST00000531972.5:c.733del	ENSP00000435295.1:p.Asp245MetfsTer?
ENST00000532084.5:n.159del
NM_016938.4:c.733del	NP_058634.4:p.Asp245MetfsTer?
NR_037718.1:n.992del
NM_016938.5:c.733del MANE Select	NP_058634.4:p.Asp245MetfsTer?
NR_037718.2:n.858del