Canonical Allele Identifier: CA2614404894

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65868257-CGTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868260_65868262del , CM000673.2:g.65868260_65868262del	GRCh38
NC_000011.9:g.65635731_65635733del , CM000673.1:g.65635731_65635733del	GRCh37
NC_000011.8:g.65392307_65392309del	NCBI36
NG_012304.2:g.9675_9677del
NG_053116.1:g.13199_13201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.974+35_974+37del MANE Select	ENSP00000309953.6:n.974+35_974+37del
ENST00000307998.10:c.974+35_974+37del	ENSP00000309953.6:n.974+35_974+37del
ENST00000525392.1:n.135+35_135+37del
ENST00000526628.5:n.1540+35_1540+37del
ENST00000528176.5:c.974+35_974+37del	ENSP00000434151.1:n.974+35_974+37del
ENST00000528409.1:n.207+46_207+48del
ENST00000530806.5:c.-25+35_-25+37del	ENSP00000436526.1:n.-25+35_-25+37del
ENST00000531005.5:n.1968+35_1968+37del
ENST00000531645.5:c.122+35_122+37del	ENSP00000436521.1:n.122+35_122+37del
ENST00000531972.5:c.974+35_974+37del	ENSP00000435295.1:n.974+35_974+37del
ENST00000532084.5:n.400+35_400+37del
NM_016938.4:c.974+35_974+37del	NP_058634.4:n.974+35_974+37del
NR_037718.1:n.1233+35_1233+37del
NM_016938.5:c.974+35_974+37del MANE Select	NP_058634.4:n.974+35_974+37del
NR_037718.2:n.1099+35_1099+37del