Canonical Allele Identifier: CA2792462172

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868691_65868692insCCCCCCAAACACACCCAAC , CM000673.2:g.65868691_65868692insCCCCCCAAACACACCCAAC	GRCh38
NC_000011.9:g.65636162_65636163insCCCCCCAAACACACCCAAC , CM000673.1:g.65636162_65636163insCCCCCCAAACACACCCAAC	GRCh37
NC_000011.8:g.65392738_65392739insCCCCCCAAACACACCCAAC	NCBI36
NG_012304.2:g.9243_9244insGTTGGGTGTGTTTGGGGGG
NG_053116.1:g.13630_13631insCCCCCCAAACACACCCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-63_728-62insGTTGGGTGTGTTTGGGGGG MANE Select	ENSP00000309953.6:n.728-63_728-62insGTTGGGTGTGTTTGGGGGG
ENST00000307998.10:c.728-63_728-62insGTTGGGTGTGTTTGGGGGG	ENSP00000309953.6:n.728-63_728-62insGTTGGGTGTGTTTGGGGGG
ENST00000526628.5:n.1231_1232insGTTGGGTGTGTTTGGGGGG
ENST00000527969.1:n.1350_1351insGTTGGGTGTGTTTGGGGGG
ENST00000528176.5:c.728-63_728-62insGTTGGGTGTGTTTGGGGGG	ENSP00000434151.1:n.728-63_728-62insGTTGGGTGTGTTTGGGGGG
ENST00000531005.5:n.1722-63_1722-62insGTTGGGTGTGTTTGGGGGG
ENST00000531972.5:c.728-63_728-62insGTTGGGTGTGTTTGGGGGG	ENSP00000435295.1:n.728-63_728-62insGTTGGGTGTGTTTGGGGGG
ENST00000532084.5:n.154-63_154-62insGTTGGGTGTGTTTGGGGGG
NM_016938.4:c.728-63_728-62insGTTGGGTGTGTTTGGGGGG	NP_058634.4:n.728-63_728-62insGTTGGGTGTGTTTGGGGGG
NR_037718.1:n.987-63_987-62insGTTGGGTGTGTTTGGGGGG
NM_016938.5:c.728-63_728-62insGTTGGGTGTGTTTGGGGGG MANE Select	NP_058634.4:n.728-63_728-62insGTTGGGTGTGTTTGGGGGG
NR_037718.2:n.853-63_853-62insGTTGGGTGTGTTTGGGGGG