Canonical Allele Identifier: CA4306449

Gene: HSPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304127_76304139del , CM000669.2:g.76304127_76304139del	GRCh38
NC_000007.13:g.75933444_75933456del , CM000669.1:g.75933444_75933456del	GRCh37
NC_000007.12:g.75771380_75771392del	NCBI36
NG_008995.1:g.6570_6582del , LRG_248:g.6570_6582del

Transcript Alleles

HGVS	Amino-acid Change
NM_001540.5:c.572_584del MANE Select	NP_001531.1:p.Leu191GlnfsTer?
ENST00000248553.7:c.572_584del MANE Select	ENSP00000248553.6:p.Leu191GlnfsTer?
NM_001540.3:c.572_584del , LRG_248t1:c.572_584del	NP_001531.1:p.Leu191GlnfsTer?
NM_001540.4:c.572_584del	NP_001531.1:p.Leu191GlnfsTer?
ENST00000248553.6:c.572_584del	ENSP00000248553.6:p.Leu191GlnfsTer?
ENST00000429938.1:c.68_80del	ENSP00000405285.1:p.Leu23GlnfsTer?
ENST00000447574.1:c.*736_*748del	ENSP00000414357.1:n.*736_*748del
ENST00000674547.1:c.*163_*175del	ENSP00000502461.1:n.*163_*175del
ENST00000674638.1:c.*93_*105del	ENSP00000502651.1:n.*93_*105del
ENST00000674650.1:c.*82_*94del	ENSP00000501628.1:n.*82_*94del
ENST00000674965.1:c.*228_*240del	ENSP00000501765.1:n.*228_*240del
ENST00000675134.1:c.551_563del	ENSP00000501831.1:p.Leu184GlnfsTer?
ENST00000675226.1:c.*82_*94del	ENSP00000502510.1:n.*82_*94del
ENST00000675417.1:n.923_935del
ENST00000675538.1:c.*82_*94del	ENSP00000502495.1:n.*82_*94del
ENST00000675906.1:c.*157_*169del	ENSP00000502714.1:n.*157_*169del
ENST00000676231.1:c.602_614del	ENSP00000502249.1:p.Leu201GlnfsTer?