Canonical Allele Identifier: CA2675573914

Gene: HBEGF

Linked Data

• gnomAD v4: 5-140333364-C-CCATAGGAGAGGAGGTTATGATGTGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140333364_140333365insCATAGGAGAGGAGGTTATGATGTGGA , CM000667.2:g.140333364_140333365insCATAGGAGAGGAGGTTATGATGTGGA	GRCh38
NC_000005.9:g.139712949_139712950insCATAGGAGAGGAGGTTATGATGTGGA , CM000667.1:g.139712949_139712950insCATAGGAGAGGAGGTTATGATGTGGA	GRCh37
NC_000005.8:g.139693133_139693134insCATAGGAGAGGAGGTTATGATGTGGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230990.7:c.*934_*935insTCCACATCATAACCTCCTCTCCTATG MANE Select	ENSP00000230990.6:n.*934_*935insTCCACATCATAACCTCCTCTCCTATG
ENST00000230990.6:c.*934_*935insTCCACATCATAACCTCCTCTCCTATG	ENSP00000230990.6:n.*934_*935insTCCACATCATAACCTCCTCTCCTATG
NM_001945.2:c.*934_*935insTCCACATCATAACCTCCTCTCCTATG	NP_001936.1:n.*934_*935insTCCACATCATAACCTCCTCTCCTATG
NM_001945.3:c.*934_*935insTCCACATCATAACCTCCTCTCCTATG MANE Select	NP_001936.1:n.*934_*935insTCCACATCATAACCTCCTCTCCTATG