Canonical Allele Identifier: CA6345488

Gene: HEPN1 HEPACAM

Linked Data

• ClinVar Variation Id: 303294
• ClinVar RCV Id: RCV000341822
• dbSNP Id: rs527377754
• ExAC: 11:124789742 AAGG / A
• gnomAD v2: 11-124789742-AAGG-A
• gnomAD v3: 11-124919846-AAGG-A
• gnomAD v4: 11-124919846-AAGG-A
• COSMIC: COSM4167554
• MyVariant Identifiers: chr11:g.124789743_124789745del (hg19) ; chr11:g.124919848_124919850del (hg38) ; chr11:g.124919847_124919849del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124919853_124919855del , CM000673.2:g.124919853_124919855del	GRCh38
NC_000011.9:g.124789749_124789751del , CM000673.1:g.124789749_124789751del	GRCh37
NC_000011.8:g.124294959_124294961del	NCBI36
NG_029603.1:g.21564_21566del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000408930.7:c.103_105del (HEPN1) MANE Select	ENSP00000386143.4:p.Arg35del
ENST00000703807.1:c.*1289_*1291del (HEPACAM)	ENSP00000515485.1:n.*1289_*1291del
ENST00000298251.5:c.*1289_*1291del (HEPACAM) MANE Select	ENSP00000298251.4:n.*1289_*1291del
ENST00000298251.4:c.*1289_*1291del (HEPACAM)	ENSP00000298251.4:n.*1289_*1291del
ENST00000408930.6:c.103_105del (HEPN1)	ENSP00000386143.4:p.Arg35del
NM_001037558.2:c.103_105del (HEPN1)	NP_001032647.2:p.Arg35del
NM_152722.4:c.*1289_*1291del (HEPACAM)	NP_689935.2:n.*1289_*1291del
XM_005271449.1:c.*1289_*1291del (HEPACAM)	XP_005271506.1:n.*1289_*1291del
XM_006718786.1:c.*1289_*1291del (HEPACAM)	XP_006718849.1:n.*1289_*1291del
XM_011542669.1:c.*1289_*1291del (HEPACAM)	XP_011540971.1:n.*1289_*1291del
XM_005271449.2:c.*1289_*1291del (HEPACAM)	XP_005271506.1:n.*1289_*1291del
XM_017017361.1:c.*1289_*1291del (HEPACAM)	XP_016872850.1:n.*1289_*1291del
XR_001748429.2:n.325-23547_325-23545del
NM_152722.5:c.*1289_*1291del (HEPACAM) MANE Select	NP_689935.2:n.*1289_*1291del
NR_170124.1:n.579_581del (HEPN1)