Canonical Allele Identifier: CA2604843716
Gene: HBEGF HGNC NCBI

Linked Data

dbSNP Id: rs2126715101
gnomAD v3: 5-140333118-C-CA
gnomAD v4: 5-140333118-C-CA
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333119dup , CM000667.2:g.140333119dup GRCh38
NC_000005.9:g.139712704dup , CM000667.1:g.139712704dup GRCh37
NC_000005.8:g.139692888dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*1180dup MANE Select ENSP00000230990.6:n.*1180dup
ENST00000230990.6:c.*1180dup ENSP00000230990.6:n.*1180dup
NM_001945.2:c.*1180dup NP_001936.1:n.*1180dup
NM_001945.3:c.*1180dup MANE Select NP_001936.1:n.*1180dup
Search 100 bp 5'
Search 100 bp 3'