Canonical Allele Identifier: CA2580614638

Gene: HMGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.30461450_30461453del , CM000675.2:g.30461450_30461453del	GRCh38
NC_000013.10:g.31035587_31035590del , CM000675.1:g.31035587_31035590del	GRCh37
NC_000013.9:g.29933587_29933590del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002128.7:c.556_559del MANE Select	NP_002119.1:p.Glu186ArgfsTer?
ENST00000341423.10:c.556_559del MANE Select	ENSP00000345347.5:p.Glu186ArgfsTer?
NM_001313892.1:c.556_559del	NP_001300821.1:p.Glu186ArgfsTer?
NM_001313892.2:c.556_559del	NP_001300821.1:p.Glu186ArgfsTer?
NM_001313893.1:c.556_559del	NP_001300822.1:p.Glu186ArgfsTer?
NM_001363661.1:c.*129_*132del	NP_001350590.1:n.*129_*132del
NM_001363661.2:c.*129_*132del	NP_001350590.1:n.*129_*132del
NM_001370339.1:c.*234_*237del	NP_001357268.1:n.*234_*237del
NM_001370340.1:c.556_559del	NP_001357269.1:p.Glu186ArgfsTer?
NM_001370341.1:c.556_559del	NP_001357270.1:p.Glu186ArgfsTer?
NM_002128.4:c.556_559del	NP_002119.1:p.Glu186ArgfsTer?
NM_002128.5:c.556_559del	NP_002119.1:p.Glu186ArgfsTer?
NM_002128.6:c.556_559del	NP_002119.1:p.Glu186ArgfsTer?
ENST00000339872.8:c.556_559del	ENSP00000343040.4:p.Glu186ArgfsTer?
ENST00000341423.9:c.556_559del	ENSP00000345347.5:p.Glu186ArgfsTer?
ENST00000399489.5:c.*129_*132del	ENSP00000382412.1:n.*129_*132del
ENST00000399494.5:c.556_559del	ENSP00000382417.1:p.Glu186ArgfsTer?
ENST00000405805.5:c.556_559del	ENSP00000384678.1:p.Glu186ArgfsTer?
XM_005266365.1:c.556_559del	XP_005266422.1:p.Glu186ArgfsTer?
XM_005266368.1:c.*129_*132del	XP_005266425.1:n.*129_*132del
XM_011535055.1:c.556_559del	XP_011533357.1:p.Glu186ArgfsTer?
XM_011535056.1:c.*234_*237del	XP_011533358.1:n.*234_*237del
XM_024449340.1:c.556_559del	XP_024305108.1:p.Glu186ArgfsTer?
XM_024449341.1:c.556_559del	XP_024305109.1:p.Glu186ArgfsTer?
XM_024449342.1:c.556_559del	XP_024305110.1:p.Glu186ArgfsTer?
XM_024449343.1:c.*234_*237del	XP_024305111.1:n.*234_*237del