Canonical Allele Identifier: CA1718331078

Gene: HSPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303894_76303905delinsTGGGTGGCGTGG , CM000669.2:g.76303894_76303905delinsTGGGTGGCGTGG	GRCh38
NC_000007.13:g.75933211_75933222delinsTGGGTGGCGTGG , CM000669.1:g.75933211_75933222delinsTGGGTGGCGTGG	GRCh37
NC_000007.12:g.75771147_75771158delinsTGGGTGGCGTGG	NCBI36
NG_008995.1:g.6337_6348delinsTGGGTGGCGTGG , LRG_248:g.6337_6348delinsTGGGTGGCGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+29_428+40delinsTGGGTGGCGTGG MANE Select	ENSP00000248553.6:n.428+29_428+40delinsTGGGTGGCGTGG
ENST00000674547.1:c.*19+6_*19+17delinsTGGGTGGCGTGG	ENSP00000502461.1:n.*19+6_*19+17delinsTGGGTGGCGTGG
ENST00000674638.1:c.423+29_423+40delinsTGGGTGGCGTGG	ENSP00000502651.1:n.423+29_423+40delinsTGGGTGGCGTGG
ENST00000674650.1:c.365-90_365-79delinsTGGGTGGCGTGG	ENSP00000501628.1:n.365-90_365-79delinsTGGGTGGCGTGG
ENST00000674965.1:c.*84+29_*84+40delinsTGGGTGGCGTGG	ENSP00000501765.1:n.*84+29_*84+40delinsTGGGTGGCGTGG
ENST00000675134.1:c.407+50_407+61delinsTGGGTGGCGTGG	ENSP00000501831.1:n.407+50_407+61delinsTGGGTGGCGTGG
ENST00000675226.1:c.427+29_427+40delinsTGGGTGGCGTGG	ENSP00000502510.1:n.427+29_427+40delinsTGGGTGGCGTGG
ENST00000675417.1:n.690_701delinsTGGGTGGCGTGG
ENST00000675538.1:c.463+29_463+40delinsTGGGTGGCGTGG	ENSP00000502495.1:n.463+29_463+40delinsTGGGTGGCGTGG
ENST00000675906.1:c.*13+12_*13+23delinsTGGGTGGCGTGG	ENSP00000502714.1:n.*13+12_*13+23delinsTGGGTGGCGTGG
ENST00000676231.1:c.458+29_458+40delinsTGGGTGGCGTGG	ENSP00000502249.1:n.458+29_458+40delinsTGGGTGGCGTGG
ENST00000248553.6:c.428+29_428+40delinsTGGGTGGCGTGG	ENSP00000248553.6:n.428+29_428+40delinsTGGGTGGCGTGG
ENST00000429938.1:c.-77+29_-77+40delinsTGGGTGGCGTGG	ENSP00000405285.1:n.-77+29_-77+40delinsTGGGTGGCGTGG
ENST00000447574.1:c.*592+29_*592+40delinsTGGGTGGCGTGG	ENSP00000414357.1:n.*592+29_*592+40delinsTGGGTGGCGTGG
NM_001540.3:c.428+29_428+40delinsTGGGTGGCGTGG , LRG_248t1:c.428+29_428+40delinsTGGGTGGCGTGG	NP_001531.1:n.428+29_428+40delinsTGGGTGGCGTGG
NM_001540.4:c.428+29_428+40delinsTGGGTGGCGTGG	NP_001531.1:n.428+29_428+40delinsTGGGTGGCGTGG
NM_001540.5:c.428+29_428+40delinsTGGGTGGCGTGG MANE Select	NP_001531.1:n.428+29_428+40delinsTGGGTGGCGTGG