Canonical Allele Identifier: CA2675573921

Gene: HBEGF

Linked Data

• gnomAD v4: 5-140333368-T-TTATCTTCCTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140333368_140333369insTATCTTCCTCA , CM000667.2:g.140333368_140333369insTATCTTCCTCA	GRCh38
NC_000005.9:g.139712953_139712954insTATCTTCCTCA , CM000667.1:g.139712953_139712954insTATCTTCCTCA	GRCh37
NC_000005.8:g.139693137_139693138insTATCTTCCTCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230990.7:c.*930_*931insTGAGGAAGATA MANE Select	ENSP00000230990.6:n.*930_*931insTGAGGAAGATA
ENST00000230990.6:c.*930_*931insTGAGGAAGATA	ENSP00000230990.6:n.*930_*931insTGAGGAAGATA
NM_001945.2:c.*930_*931insTGAGGAAGATA	NP_001936.1:n.*930_*931insTGAGGAAGATA
NM_001945.3:c.*930_*931insTGAGGAAGATA MANE Select	NP_001936.1:n.*930_*931insTGAGGAAGATA