Canonical Allele Identifier: CA2683408889

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303892-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303892_76303893insC , CM000669.2:g.76303892_76303893insC	GRCh38
NC_000007.13:g.75933209_75933210insC , CM000669.1:g.75933209_75933210insC	GRCh37
NC_000007.12:g.75771145_75771146insC	NCBI36
NG_008995.1:g.6335_6336insC , LRG_248:g.6335_6336insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+27_428+28insC MANE Select	ENSP00000248553.6:n.428+27_428+28insC
ENST00000674547.1:c.*19+4_*19+5insC	ENSP00000502461.1:n.*19+4_*19+5insC
ENST00000674638.1:c.423+27_423+28insC	ENSP00000502651.1:n.423+27_423+28insC
ENST00000674650.1:c.365-92_365-91insC	ENSP00000501628.1:n.365-92_365-91insC
ENST00000674965.1:c.*84+27_*84+28insC	ENSP00000501765.1:n.*84+27_*84+28insC
ENST00000675134.1:c.407+48_407+49insC	ENSP00000501831.1:n.407+48_407+49insC
ENST00000675226.1:c.427+27_427+28insC	ENSP00000502510.1:n.427+27_427+28insC
ENST00000675417.1:n.688_689insC
ENST00000675538.1:c.463+27_463+28insC	ENSP00000502495.1:n.463+27_463+28insC
ENST00000675906.1:c.*13+10_*13+11insC	ENSP00000502714.1:n.*13+10_*13+11insC
ENST00000676231.1:c.458+27_458+28insC	ENSP00000502249.1:n.458+27_458+28insC
ENST00000248553.6:c.428+27_428+28insC	ENSP00000248553.6:n.428+27_428+28insC
ENST00000429938.1:c.-77+27_-77+28insC	ENSP00000405285.1:n.-77+27_-77+28insC
ENST00000447574.1:c.*592+27_*592+28insC	ENSP00000414357.1:n.*592+27_*592+28insC
NM_001540.3:c.428+27_428+28insC , LRG_248t1:c.428+27_428+28insC	NP_001531.1:n.428+27_428+28insC
NM_001540.4:c.428+27_428+28insC	NP_001531.1:n.428+27_428+28insC
NM_001540.5:c.428+27_428+28insC MANE Select	NP_001531.1:n.428+27_428+28insC