Canonical Allele Identifier: CA1979444971

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868641_65868642delinsTG , CM000673.2:g.65868641_65868642delinsTG	GRCh38
NC_000011.9:g.65636112_65636113delinsTG , CM000673.1:g.65636112_65636113delinsTG	GRCh37
NC_000011.8:g.65392688_65392689delinsTG	NCBI36
NG_012304.2:g.9293_9294delinsCA
NG_053116.1:g.13580_13581delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-13_728-12delinsCA MANE Select	ENSP00000309953.6:n.728-13_728-12delinsCA
ENST00000307998.10:c.728-13_728-12delinsCA	ENSP00000309953.6:n.728-13_728-12delinsCA
ENST00000526628.5:n.1281_1282delinsCA
ENST00000527969.1:n.1400_1401delinsCA
ENST00000528176.5:c.728-13_728-12delinsCA	ENSP00000434151.1:n.728-13_728-12delinsCA
ENST00000531005.5:n.1722-13_1722-12delinsCA
ENST00000531972.5:c.728-13_728-12delinsCA	ENSP00000435295.1:n.728-13_728-12delinsCA
ENST00000532084.5:n.154-13_154-12delinsCA
NM_016938.4:c.728-13_728-12delinsCA	NP_058634.4:n.728-13_728-12delinsCA
NR_037718.1:n.987-13_987-12delinsCA
NM_016938.5:c.728-13_728-12delinsCA MANE Select	NP_058634.4:n.728-13_728-12delinsCA
NR_037718.2:n.853-13_853-12delinsCA