Canonical Allele Identifier: CA1979439959

Gene: EFEMP2 MUS81

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65867067_65867070delinsCGTT , CM000673.2:g.65867067_65867070delinsCGTT	GRCh38
NC_000011.9:g.65634538_65634541delinsCGTT , CM000673.1:g.65634538_65634541delinsCGTT	GRCh37
NC_000011.8:g.65391114_65391117delinsCGTT	NCBI36
NG_012304.2:g.10865_10868delinsAACG
NG_053116.1:g.12006_12009delinsCGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.1180_1183delinsAACG (EFEMP2) MANE Select	ENSP00000309953.6:p.Asn394=
ENST00000307998.10:c.1180_1183delinsAACG (EFEMP2)	ENSP00000309953.6:p.Asn394=
ENST00000524408.1:c.56_59delinsAACG (EFEMP2)
ENST00000525006.1:n.38-190_38-187delinsCGTT (MUS81)
ENST00000526628.5:n.1746_1749delinsAACG (EFEMP2)
ENST00000526911.1:c.157_160delinsAACG (EFEMP2)	ENSP00000436536.1:p.Asn53=
ENST00000527277.5:c.11_14delinsAACG (EFEMP2)
ENST00000528176.5:c.1171-358_1171-355delinsAACG (EFEMP2)	ENSP00000434151.1:n.1171-358_1171-355deli...
ENST00000528409.1:n.413_416delinsAACG (EFEMP2)
ENST00000530806.5:c.139_142delinsAACG (EFEMP2)	ENSP00000436526.1:p.Asn47=
ENST00000531645.5:c.319-136_319-133delinsAACG (EFEMP2)	ENSP00000436521.1:n.319-136_319-133delins...
ENST00000531972.5:c.1180_1183delinsAACG (EFEMP2)	ENSP00000435295.1:p.Asn394=
ENST00000532648.1:n.35_38delinsAACG (EFEMP2)
NM_016938.4:c.1180_1183delinsAACG (EFEMP2)	NP_058634.4:p.Asn394=
NR_037718.1:n.1439_1442delinsAACG (EFEMP2)
NR_146598.1:n.1845-190_1845-187delinsCGTT (MUS81)
NM_016938.5:c.1180_1183delinsAACG (EFEMP2) MANE Select	NP_058634.4:p.Asn394=
NR_037718.2:n.1305_1308delinsAACG (EFEMP2)
NR_146598.2:n.1813-190_1813-187delinsCGTT (MUS81)