Canonical Allele Identifier: CA4306419

Gene: HSPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303993dup , CM000669.2:g.76303993dup	GRCh38
NC_000007.13:g.75933310dup , CM000669.1:g.75933310dup	GRCh37
NC_000007.12:g.75771246dup	NCBI36
NG_008995.1:g.6436dup , LRG_248:g.6436dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001540.5:c.438dup MANE Select	NP_001531.1:p.Gly147ArgfsTer14
ENST00000248553.7:c.438dup MANE Select	ENSP00000248553.6:p.Gly147ArgfsTer14
NM_001540.3:c.438dup , LRG_248t1:c.438dup	NP_001531.1:p.Gly147ArgfsTer14
NM_001540.4:c.438dup	NP_001531.1:p.Gly147ArgfsTer14
ENST00000248553.6:c.438dup	ENSP00000248553.6:p.Gly147ArgfsTer14
ENST00000429938.1:c.-67dup	ENSP00000405285.1:n.-67dup
ENST00000447574.1:c.*602dup	ENSP00000414357.1:n.*602dup
ENST00000674547.1:c.*29dup	ENSP00000502461.1:n.*29dup
ENST00000674638.1:c.433dup	ENSP00000502651.1:p.Arg145ProfsTer18
ENST00000674650.1:c.374dup	ENSP00000501628.1:p.Val126GlyfsTer?
ENST00000674965.1:c.*94dup	ENSP00000501765.1:n.*94dup
ENST00000675134.1:c.417dup	ENSP00000501831.1:p.Gly140ArgfsTer14
ENST00000675226.1:c.437dup	ENSP00000502510.1:p.Val147GlyfsTer?
ENST00000675417.1:n.789dup
ENST00000675538.1:c.473dup	ENSP00000502495.1:p.Val159GlyfsTer?
ENST00000675906.1:c.*23dup	ENSP00000502714.1:n.*23dup
ENST00000676231.1:c.468dup	ENSP00000502249.1:p.Gly157ArgfsTer14