Canonical Allele Identifier: CA2675573924
Gene: HBEGF HGNC NCBI

Linked Data

gnomAD v4: 5-140333370-GT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333371del , CM000667.2:g.140333371del GRCh38
NC_000005.9:g.139712956del , CM000667.1:g.139712956del GRCh37
NC_000005.8:g.139693140del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*928del MANE Select ENSP00000230990.6:n.*928del
ENST00000230990.6:c.*928del ENSP00000230990.6:n.*928del
NM_001945.2:c.*928del NP_001936.1:n.*928del
NM_001945.3:c.*928del MANE Select NP_001936.1:n.*928del
Search 100 bp 5'
Search 100 bp 3'