Canonical Allele Identifier: CA1718330813

Gene: HSPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303809_76303812delinsCGAG , CM000669.2:g.76303809_76303812delinsCGAG	GRCh38
NC_000007.13:g.75933126_75933129delinsCGAG , CM000669.1:g.75933126_75933129delinsCGAG	GRCh37
NC_000007.12:g.75771062_75771065delinsCGAG	NCBI36
NG_008995.1:g.6252_6255delinsCGAG , LRG_248:g.6252_6255delinsCGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.372_375delinsCGAG MANE Select	ENSP00000248553.6:p.His124=
ENST00000674547.1:c.372_375delinsCGAG	ENSP00000502461.1:p.His124=
ENST00000674638.1:c.367_370delinsCGAG	ENSP00000502651.1:p.Arg123=
ENST00000674650.1:c.365-175_365-172delinsCGAG	ENSP00000501628.1:n.365-175_365-172delinsCGAG
ENST00000674965.1:c.*28_*31delinsCGAG	ENSP00000501765.1:n.*28_*31delinsCGAG
ENST00000675134.1:c.372_375delinsCGAG	ENSP00000501831.1:p.His124=
ENST00000675226.1:c.371_374delinsCGAG	ENSP00000502510.1:p.Thr124=
ENST00000675417.1:n.605_608delinsCGAG
ENST00000675538.1:c.407_410delinsCGAG	ENSP00000502495.1:p.Thr136=
ENST00000675906.1:c.372_375delinsCGAG	ENSP00000502714.1:p.His124=
ENST00000676195.1:n.88_91delinsCGAG
ENST00000676231.1:c.402_405delinsCGAG	ENSP00000502249.1:p.His134=
ENST00000248553.6:c.372_375delinsCGAG	ENSP00000248553.6:p.His124=
ENST00000429938.1:c.-133_-130delinsCGAG	ENSP00000405285.1:n.-133_-130delinsCGAG
ENST00000447574.1:c.*536_*539delinsCGAG	ENSP00000414357.1:n.*536_*539delinsCGAG
NM_001540.3:c.372_375delinsCGAG , LRG_248t1:c.372_375delinsCGAG	NP_001531.1:p.His124=
NM_001540.4:c.372_375delinsCGAG	NP_001531.1:p.His124=
NM_001540.5:c.372_375delinsCGAG MANE Select	NP_001531.1:p.His124=