Canonical Allele Identifier: CA2675573919

Gene: HBEGF

Linked Data

• gnomAD v4: 5-140333367-A-AAC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140333367_140333368insAC , CM000667.2:g.140333367_140333368insAC	GRCh38
NC_000005.9:g.139712952_139712953insAC , CM000667.1:g.139712952_139712953insAC	GRCh37
NC_000005.8:g.139693136_139693137insAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230990.7:c.*931_*932insGT MANE Select	ENSP00000230990.6:n.*931_*932insGT
ENST00000230990.6:c.*931_*932insGT	ENSP00000230990.6:n.*931_*932insGT
NM_001945.2:c.*931_*932insGT	NP_001936.1:n.*931_*932insGT
NM_001945.3:c.*931_*932insGT MANE Select	NP_001936.1:n.*931_*932insGT