Canonical Allele Identifier: CA247853760

Gene: HMGB1

Linked Data

• dbSNP Id: rs542368818
• gnomAD v2: 13-31033186-TATA-T
• gnomAD v3: 13-30459049-TATA-T
• gnomAD v4: 13-30459049-TATA-T
• MyVariant Identifiers: chr13:g.31033187_31033189del (hg19) ; chr13:g.30459050_30459052del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.30459050_30459052del , CM000675.2:g.30459050_30459052del	GRCh38
NC_000013.10:g.31033187_31033189del , CM000675.1:g.31033187_31033189del	GRCh37
NC_000013.9:g.29931187_29931189del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341423.10:c.*2305_*2307del MANE Select	ENSP00000345347.5:n.*2305_*2307del
ENST00000341423.9:c.*2305_*2307del	ENSP00000345347.5:n.*2305_*2307del
ENST00000405805.5:c.*2305_*2307del	ENSP00000384678.1:n.*2305_*2307del
NM_001313892.1:c.*2305_*2307del	NP_001300821.1:n.*2305_*2307del
NM_001313893.1:c.*2305_*2307del	NP_001300822.1:n.*2305_*2307del
NM_002128.4:c.*2305_*2307del	NP_002119.1:n.*2305_*2307del
NM_002128.5:c.*2305_*2307del	NP_002119.1:n.*2305_*2307del
NM_001363661.1:c.*2526_*2528del	NP_001350590.1:n.*2526_*2528del
NM_002128.6:c.*2305_*2307del	NP_002119.1:n.*2305_*2307del
NM_002128.7:c.*2305_*2307del MANE Select	NP_002119.1:n.*2305_*2307del
NM_001370339.1:c.*2631_*2633del	NP_001357268.1:n.*2631_*2633del
NM_001370340.1:c.*2305_*2307del	NP_001357269.1:n.*2305_*2307del
NM_001370341.1:c.*2305_*2307del	NP_001357270.1:n.*2305_*2307del
NM_001313892.2:c.*2305_*2307del	NP_001300821.1:n.*2305_*2307del
NM_001363661.2:c.*2526_*2528del	NP_001350590.1:n.*2526_*2528del