Canonical Allele Identifier: CA2675573979
Gene: HBEGF HGNC NCBI

Linked Data

gnomAD v4: 5-140333445-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333447del , CM000667.2:g.140333447del GRCh38
NC_000005.9:g.139713032del , CM000667.1:g.139713032del GRCh37
NC_000005.8:g.139693216del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*853del MANE Select ENSP00000230990.6:n.*853del
ENST00000230990.6:c.*853del ENSP00000230990.6:n.*853del
NM_001945.2:c.*853del NP_001936.1:n.*853del
NM_001945.3:c.*853del MANE Select NP_001936.1:n.*853del
Search 100 bp 5'
Search 100 bp 3'