Canonical Allele Identifier: CA4789729

Gene: HEY1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.79766263_79766269del , CM000670.2:g.79766263_79766269del	GRCh38
NC_000008.10:g.80678498_80678504del , CM000670.1:g.80678498_80678504del	GRCh37
NC_000008.9:g.80841053_80841059del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435063.4:n.142+102_142+108del
ENST00000354724.8:c.331+386_331+392del MANE Select	ENSP00000346761.3:n.331+386_331+392del
ENST00000435063.3:n.131+102_131+108del
ENST00000519075.2:n.1446_1452del
ENST00000521111.2:n.1150_1156del
ENST00000523531.2:n.582-494_582-488del
ENST00000523976.2:c.-2_5del
ENST00000674160.1:c.*71+386_*71+392del	ENSP00000501529.1:n.*71+386_*71+392del
ENST00000674177.1:c.*158+386_*158+392del	ENSP00000501471.1:n.*158+386_*158+392del
ENST00000674192.1:n.211_217del
ENST00000674295.1:c.217+386_217+392del	ENSP00000501320.1:n.217+386_217+392del
ENST00000674358.1:c.229+386_229+392del	ENSP00000501370.1:n.229+386_229+392del
ENST00000674418.1:c.217+386_217+392del	ENSP00000501342.1:n.217+386_217+392del
ENST00000674439.1:n.559+386_559+392del
ENST00000337919.9:c.343+386_343+392del	ENSP00000338272.5:n.343+386_343+392del
ENST00000354724.7:c.331+386_331+392del	ENSP00000346761.3:n.331+386_331+392del
ENST00000435063.2:n.127+102_127+108del
ENST00000518733.1:c.217+386_217+392del	ENSP00000429705.1:n.217+386_217+392del
ENST00000523976.1:c.-2_5del
NM_001040708.1:c.343+386_343+392del	NP_001035798.1:n.343+386_343+392del
NM_001282851.1:c.-2_5del
NM_012258.3:c.331+386_331+392del	NP_036390.3:n.331+386_331+392del
NM_012258.4:c.331+386_331+392del MANE Select	NP_036390.3:n.331+386_331+392del
NM_001040708.2:c.343+386_343+392del	NP_001035798.1:n.343+386_343+392del
NM_001282851.2:c.-2_5del