Canonical Allele Identifier: CA4306277

Gene: HSPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76302877_76302883dup , CM000669.2:g.76302877_76302883dup	GRCh38
NC_000007.13:g.75932194_75932200dup , CM000669.1:g.75932194_75932200dup	GRCh37
NC_000007.12:g.75770130_75770136dup	NCBI36
NG_008995.1:g.5320_5326dup , LRG_248:g.5320_5326dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001540.5:c.165_171dup MANE Select	NP_001531.1:p.Leu58AlafsTer?
ENST00000248553.7:c.165_171dup MANE Select	ENSP00000248553.6:p.Leu58AlafsTer?
NM_001540.3:c.165_171dup , LRG_248t1:c.165_171dup	NP_001531.1:p.Leu58AlafsTer?
NM_001540.4:c.165_171dup	NP_001531.1:p.Leu58AlafsTer?
ENST00000248553.6:c.165_171dup	ENSP00000248553.6:p.Leu58AlafsTer?
ENST00000447574.1:c.165_171dup	ENSP00000414357.1:p.Leu58AlafsTer?
ENST00000674547.1:c.165_171dup	ENSP00000502461.1:p.Leu58AlafsTer?
ENST00000674560.1:n.205_211dup
ENST00000674638.1:c.165_171dup	ENSP00000502651.1:p.Leu58AlafsTer?
ENST00000674650.1:c.165_171dup	ENSP00000501628.1:p.Leu58AlafsTer?
ENST00000674965.1:c.165_171dup	ENSP00000501765.1:p.Leu58AlafsTer?
ENST00000675134.1:c.165_171dup	ENSP00000501831.1:p.Leu58AlafsTer?
ENST00000675226.1:c.165_171dup	ENSP00000502510.1:p.Leu58AlafsTer?
ENST00000675488.1:n.205_211dup
ENST00000675538.1:c.165_171dup	ENSP00000502495.1:p.Leu58AlafsTer?
ENST00000675624.1:n.205_211dup
ENST00000675733.1:n.205_211dup
ENST00000675906.1:c.165_171dup	ENSP00000502714.1:p.Leu58AlafsTer?
ENST00000676231.1:c.165_171dup	ENSP00000502249.1:p.Leu58AlafsTer?
ENST00000676398.1:n.205_211dup