Canonical Allele Identifier: CA2614405985

Gene: EFEMP2

Linked Data

• gnomAD v4: 11-65868687-CACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868689_65868691del , CM000673.2:g.65868689_65868691del	GRCh38
NC_000011.9:g.65636160_65636162del , CM000673.1:g.65636160_65636162del	GRCh37
NC_000011.8:g.65392736_65392738del	NCBI36
NG_012304.2:g.9245_9247del
NG_053116.1:g.13628_13630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-61_728-59del MANE Select	ENSP00000309953.6:n.728-61_728-59del
ENST00000307998.10:c.728-61_728-59del	ENSP00000309953.6:n.728-61_728-59del
ENST00000526628.5:n.1233_1235del
ENST00000527969.1:n.1352_1354del
ENST00000528176.5:c.728-61_728-59del	ENSP00000434151.1:n.728-61_728-59del
ENST00000531005.5:n.1722-61_1722-59del
ENST00000531972.5:c.728-61_728-59del	ENSP00000435295.1:n.728-61_728-59del
ENST00000532084.5:n.154-61_154-59del
NM_016938.4:c.728-61_728-59del	NP_058634.4:n.728-61_728-59del
NR_037718.1:n.987-61_987-59del
NM_016938.5:c.728-61_728-59del MANE Select	NP_058634.4:n.728-61_728-59del
NR_037718.2:n.853-61_853-59del