Canonical Allele Identifier: CA804690216
Gene: HBEGF HGNC NCBI

Linked Data

dbSNP Id: rs1206842425

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333339del , CM000667.2:g.140333339del GRCh38
NC_000005.9:g.139712924del , CM000667.1:g.139712924del GRCh37
NC_000005.8:g.139693108del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*960del MANE Select ENSP00000230990.6:n.*960del
ENST00000230990.6:c.*960del ENSP00000230990.6:n.*960del
NM_001945.2:c.*960del NP_001936.1:n.*960del
NM_001945.3:c.*960del MANE Select NP_001936.1:n.*960del