Canonical Allele Identifier: CA1718331067

Gene: HSPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303892_76303901delinsGGTGGGTGGC , CM000669.2:g.76303892_76303901delinsGGTGGGTGGC	GRCh38
NC_000007.13:g.75933209_75933218delinsGGTGGGTGGC , CM000669.1:g.75933209_75933218delinsGGTGGGTGGC	GRCh37
NC_000007.12:g.75771145_75771154delinsGGTGGGTGGC	NCBI36
NG_008995.1:g.6335_6344delinsGGTGGGTGGC , LRG_248:g.6335_6344delinsGGTGGGTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+27_428+36delinsGGTGGGTGGC MANE Select	ENSP00000248553.6:n.428+27_428+36delinsGGTGGGTGGC
ENST00000674547.1:c.*19+4_*19+13delinsGGTGGGTGGC	ENSP00000502461.1:n.*19+4_*19+13delinsGGTGGGTGGC
ENST00000674638.1:c.423+27_423+36delinsGGTGGGTGGC	ENSP00000502651.1:n.423+27_423+36delinsGGTGGGTGGC
ENST00000674650.1:c.365-92_365-83delinsGGTGGGTGGC	ENSP00000501628.1:n.365-92_365-83delinsGGTGGGTGGC
ENST00000674965.1:c.*84+27_*84+36delinsGGTGGGTGGC	ENSP00000501765.1:n.*84+27_*84+36delinsGGTGGGTGGC
ENST00000675134.1:c.407+48_407+57delinsGGTGGGTGGC	ENSP00000501831.1:n.407+48_407+57delinsGGTGGGTGGC
ENST00000675226.1:c.427+27_427+36delinsGGTGGGTGGC	ENSP00000502510.1:n.427+27_427+36delinsGGTGGGTGGC
ENST00000675417.1:n.688_697delinsGGTGGGTGGC
ENST00000675538.1:c.463+27_463+36delinsGGTGGGTGGC	ENSP00000502495.1:n.463+27_463+36delinsGGTGGGTGGC
ENST00000675906.1:c.*13+10_*13+19delinsGGTGGGTGGC	ENSP00000502714.1:n.*13+10_*13+19delinsGGTGGGTGGC
ENST00000676231.1:c.458+27_458+36delinsGGTGGGTGGC	ENSP00000502249.1:n.458+27_458+36delinsGGTGGGTGGC
ENST00000248553.6:c.428+27_428+36delinsGGTGGGTGGC	ENSP00000248553.6:n.428+27_428+36delinsGGTGGGTGGC
ENST00000429938.1:c.-77+27_-77+36delinsGGTGGGTGGC	ENSP00000405285.1:n.-77+27_-77+36delinsGGTGGGTGGC
ENST00000447574.1:c.*592+27_*592+36delinsGGTGGGTGGC	ENSP00000414357.1:n.*592+27_*592+36delinsGGTGGGTGGC
NM_001540.3:c.428+27_428+36delinsGGTGGGTGGC , LRG_248t1:c.428+27_428+36delinsGGTGGGTGGC	NP_001531.1:n.428+27_428+36delinsGGTGGGTGGC
NM_001540.4:c.428+27_428+36delinsGGTGGGTGGC	NP_001531.1:n.428+27_428+36delinsGGTGGGTGGC
NM_001540.5:c.428+27_428+36delinsGGTGGGTGGC MANE Select	NP_001531.1:n.428+27_428+36delinsGGTGGGTGGC