Canonical Allele Identifier: CA2081916951

Gene: HMGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.30459135_30459139delinsACTTT , CM000675.2:g.30459135_30459139delinsACTTT	GRCh38
NC_000013.10:g.31033272_31033276delinsACTTT , CM000675.1:g.31033272_31033276delinsACTTT	GRCh37
NC_000013.9:g.29931272_29931276delinsACTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341423.10:c.*2218_*2222delinsAAAGT MANE Select	ENSP00000345347.5:n.*2218_*2222delinsAAAG...
ENST00000341423.9:c.*2218_*2222delinsAAAGT	ENSP00000345347.5:n.*2218_*2222delinsAAAG...
ENST00000405805.5:c.*2218_*2222delinsAAAGT	ENSP00000384678.1:n.*2218_*2222delinsAAAG...
NM_001313892.1:c.*2218_*2222delinsAAAGT	NP_001300821.1:n.*2218_*2222delinsAAAGT
NM_001313893.1:c.*2218_*2222delinsAAAGT	NP_001300822.1:n.*2218_*2222delinsAAAGT
NM_002128.4:c.*2218_*2222delinsAAAGT	NP_002119.1:n.*2218_*2222delinsAAAGT
NM_002128.5:c.*2218_*2222delinsAAAGT	NP_002119.1:n.*2218_*2222delinsAAAGT
NM_001363661.1:c.*2439_*2443delinsAAAGT	NP_001350590.1:n.*2439_*2443delinsAAAGT
NM_002128.6:c.*2218_*2222delinsAAAGT	NP_002119.1:n.*2218_*2222delinsAAAGT
NM_002128.7:c.*2218_*2222delinsAAAGT MANE Select	NP_002119.1:n.*2218_*2222delinsAAAGT
NM_001370339.1:c.*2544_*2548delinsAAAGT	NP_001357268.1:n.*2544_*2548delinsAAAGT
NM_001370340.1:c.*2218_*2222delinsAAAGT	NP_001357269.1:n.*2218_*2222delinsAAAGT
NM_001370341.1:c.*2218_*2222delinsAAAGT	NP_001357270.1:n.*2218_*2222delinsAAAGT
NM_001313892.2:c.*2218_*2222delinsAAAGT	NP_001300821.1:n.*2218_*2222delinsAAAGT
NM_001363661.2:c.*2439_*2443delinsAAAGT	NP_001350590.1:n.*2439_*2443delinsAAAGT