Canonical Allele Identifier: CA2578916962
Gene: HSPB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303740del , CM000669.2:g.76303740del GRCh38
NC_000007.13:g.75933057del , CM000669.1:g.75933057del GRCh37
NC_000007.12:g.75770993del NCBI36
NG_008995.1:g.6183del , LRG_248:g.6183del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248553.7:c.365-62del MANE Select ENSP00000248553.6:n.365-62del
ENST00000674547.1:c.365-62del ENSP00000502461.1:n.365-62del
ENST00000674638.1:c.365-67del ENSP00000502651.1:n.365-67del
ENST00000674650.1:c.365-244del ENSP00000501628.1:n.365-244del
ENST00000674965.1:c.365-37del ENSP00000501765.1:n.365-37del
ENST00000675134.1:c.365-62del ENSP00000501831.1:n.365-62del
ENST00000675226.1:c.369-67del ENSP00000502510.1:n.369-67del
ENST00000675417.1:n.536del
ENST00000675538.1:c.400-62del ENSP00000502495.1:n.400-62del
ENST00000675733.1:n.405-22del
ENST00000675906.1:c.365-62del ENSP00000502714.1:n.365-62del
ENST00000676195.1:n.81-62del
ENST00000676231.1:c.394+13del ENSP00000502249.1:n.394+13del
ENST00000248553.6:c.365-62del ENSP00000248553.6:n.365-62del
ENST00000429938.1:c.-141+13del ENSP00000405285.1:n.-141+13del
ENST00000447574.1:c.*467del ENSP00000414357.1:n.*467del
NM_001540.3:c.365-62del , LRG_248t1:c.365-62del NP_001531.1:n.365-62del
NM_001540.4:c.365-62del NP_001531.1:n.365-62del
NM_001540.5:c.365-62del MANE Select NP_001531.1:n.365-62del