Canonical Allele Identifier: CA2675573946
Gene: HBEGF HGNC NCBI

Linked Data

gnomAD v4: 5-140333386-A-AAGAGAAAGTGAAGTTG
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333386_140333387insAGAGAAAGTGAAGTTG , CM000667.2:g.140333386_140333387insAGAGAAAGTGAAGTTG GRCh38
NC_000005.9:g.139712971_139712972insAGAGAAAGTGAAGTTG , CM000667.1:g.139712971_139712972insAGAGAAAGTGAAGTTG GRCh37
NC_000005.8:g.139693155_139693156insAGAGAAAGTGAAGTTG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*912_*913insCAACTTCACTTTCTCT MANE Select ENSP00000230990.6:n.*912_*913insCAACTTCACTTTCTCT
ENST00000230990.6:c.*912_*913insCAACTTCACTTTCTCT ENSP00000230990.6:n.*912_*913insCAACTTCACTTTCTCT
NM_001945.2:c.*912_*913insCAACTTCACTTTCTCT NP_001936.1:n.*912_*913insCAACTTCACTTTCTCT
NM_001945.3:c.*912_*913insCAACTTCACTTTCTCT MANE Select NP_001936.1:n.*912_*913insCAACTTCACTTTCTCT
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