Canonical Allele Identifier: CA804689999
Gene: HBEGF HGNC NCBI

Linked Data

dbSNP Id: rs1441747498
gnomAD v3: 5-140332919-T-TTCAGAAATG
gnomAD v4: 5-140332919-T-TTCAGAAATG
MyVariant Identifiers: chr5:g.139712504_139712505insTCAGAAATG (hg19) chr5:g.140332919_140332920insTCAGAAATG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140332920_140332928dup , CM000667.2:g.140332920_140332928dup GRCh38
NC_000005.9:g.139712505_139712513dup , CM000667.1:g.139712505_139712513dup GRCh37
NC_000005.8:g.139692689_139692697dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*1371_*1379dup MANE Select ENSP00000230990.6:n.*1371_*1379dup
ENST00000230990.6:c.*1371_*1379dup ENSP00000230990.6:n.*1371_*1379dup
NM_001945.2:c.*1371_*1379dup NP_001936.1:n.*1371_*1379dup
NM_001945.3:c.*1371_*1379dup MANE Select NP_001936.1:n.*1371_*1379dup
Search 100 bp 5'
Search 100 bp 3'