Canonical Allele Identifier: CA1586714075

Gene: HBEGF

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140332935_140332936delinsGA , CM000667.2:g.140332935_140332936delinsGA	GRCh38
NC_000005.9:g.139712520_139712521delinsGA , CM000667.1:g.139712520_139712521delinsGA	GRCh37
NC_000005.8:g.139692704_139692705delinsGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230990.7:c.*1363_*1364delinsTC MANE Select	ENSP00000230990.6:n.*1363_*1364delinsTC
ENST00000230990.6:c.*1363_*1364delinsTC	ENSP00000230990.6:n.*1363_*1364delinsTC
NM_001945.2:c.*1363_*1364delinsTC	NP_001936.1:n.*1363_*1364delinsTC
NM_001945.3:c.*1363_*1364delinsTC MANE Select	NP_001936.1:n.*1363_*1364delinsTC