Canonical Allele Identifier: CA2578916968

Gene: HSPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303864_76303865del , CM000669.2:g.76303864_76303865del	GRCh38
NC_000007.13:g.75933181_75933182del , CM000669.1:g.75933181_75933182del	GRCh37
NC_000007.12:g.75771117_75771118del	NCBI36
NG_008995.1:g.6307_6308del , LRG_248:g.6307_6308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.427_428del MANE Select	ENSP00000248553.6:p.Thr143AlafsTer17
ENST00000674547.1:c.427_428del	ENSP00000502461.1:p.Thr143ValfsTer?
ENST00000674638.1:c.422_423del	ENSP00000502651.1:p.His141ArgfsTer21
ENST00000674650.1:c.365-120_365-119del	ENSP00000501628.1:n.365-120_365-119del
ENST00000674965.1:c.*83_*84del	ENSP00000501765.1:n.*83_*84del
ENST00000675134.1:c.407+20_407+21del	ENSP00000501831.1:n.407+20_407+21del
ENST00000675226.1:c.426_427del	ENSP00000502510.1:p.Arg143LeufsTer?
ENST00000675417.1:n.660_661del
ENST00000675538.1:c.462_463del	ENSP00000502495.1:p.Arg155LeufsTer?
ENST00000675906.1:c.427_428del	ENSP00000502714.1:p.Thr143ValfsTer?
ENST00000676195.1:n.143_144del
ENST00000676231.1:c.457_458del	ENSP00000502249.1:p.Thr153AlafsTer17
ENST00000248553.6:c.427_428del	ENSP00000248553.6:p.Thr143AlafsTer17
ENST00000429938.1:c.-78_-77del	ENSP00000405285.1:n.-78_-77del
ENST00000447574.1:c.*591_*592del	ENSP00000414357.1:n.*591_*592del
NM_001540.3:c.427_428del , LRG_248t1:c.427_428del	NP_001531.1:p.Thr143AlafsTer17
NM_001540.4:c.427_428del	NP_001531.1:p.Thr143AlafsTer17
NM_001540.5:c.427_428del MANE Select	NP_001531.1:p.Thr143AlafsTer17