Canonical Allele Identifier: CA2675573573
Gene: HBEGF HGNC NCBI

Linked Data

gnomAD v4: 5-140332963-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140332965del , CM000667.2:g.140332965del GRCh38
NC_000005.9:g.139712550del , CM000667.1:g.139712550del GRCh37
NC_000005.8:g.139692734del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*1335del MANE Select ENSP00000230990.6:n.*1335del
ENST00000230990.6:c.*1335del ENSP00000230990.6:n.*1335del
NM_001945.2:c.*1335del NP_001936.1:n.*1335del
NM_001945.3:c.*1335del MANE Select NP_001936.1:n.*1335del
Search 100 bp 5'
Search 100 bp 3'