Canonical Allele Identifier: CA1718331119

Gene: HSPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303908_76303909delinsGT , CM000669.2:g.76303908_76303909delinsGT	GRCh38
NC_000007.13:g.75933225_75933226delinsGT , CM000669.1:g.75933225_75933226delinsGT	GRCh37
NC_000007.12:g.75771161_75771162delinsGT	NCBI36
NG_008995.1:g.6351_6352delinsGT , LRG_248:g.6351_6352delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+43_428+44delinsGT MANE Select	ENSP00000248553.6:n.428+43_428+44delinsGT
ENST00000674547.1:c.*19+20_*19+21delinsGT	ENSP00000502461.1:n.*19+20_*19+21delinsGT
ENST00000674638.1:c.423+43_423+44delinsGT	ENSP00000502651.1:n.423+43_423+44delinsGT
ENST00000674650.1:c.365-76_365-75delinsGT	ENSP00000501628.1:n.365-76_365-75delinsGT
ENST00000674965.1:c.*84+43_*84+44delinsGT	ENSP00000501765.1:n.*84+43_*84+44delinsGT
ENST00000675134.1:c.407+64_407+65delinsGT	ENSP00000501831.1:n.407+64_407+65delinsGT
ENST00000675226.1:c.427+43_427+44delinsGT	ENSP00000502510.1:n.427+43_427+44delinsGT
ENST00000675417.1:n.704_705delinsGT
ENST00000675538.1:c.463+43_463+44delinsGT	ENSP00000502495.1:n.463+43_463+44delinsGT
ENST00000675906.1:c.*13+26_*13+27delinsGT	ENSP00000502714.1:n.*13+26_*13+27delinsGT
ENST00000676231.1:c.458+43_458+44delinsGT	ENSP00000502249.1:n.458+43_458+44delinsGT
ENST00000248553.6:c.428+43_428+44delinsGT	ENSP00000248553.6:n.428+43_428+44delinsGT
ENST00000429938.1:c.-77+43_-77+44delinsGT	ENSP00000405285.1:n.-77+43_-77+44delinsGT
ENST00000447574.1:c.*592+43_*592+44delinsGT	ENSP00000414357.1:n.*592+43_*592+44delinsGT
NM_001540.3:c.428+43_428+44delinsGT , LRG_248t1:c.428+43_428+44delinsGT	NP_001531.1:n.428+43_428+44delinsGT
NM_001540.4:c.428+43_428+44delinsGT	NP_001531.1:n.428+43_428+44delinsGT
NM_001540.5:c.428+43_428+44delinsGT MANE Select	NP_001531.1:n.428+43_428+44delinsGT