Canonical Allele Identifier: CA842327646

Gene: HSPB1

Linked Data

• dbSNP Id: rs778686522
• gnomAD v4: 7-76303901-CGTGGGG-C
• MyVariant Identifiers: chr7:g.75933219_75933224del (hg19) ; chr7:g.76303902_76303907del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303908_76303913del , CM000669.2:g.76303908_76303913del	GRCh38
NC_000007.13:g.75933225_75933230del , CM000669.1:g.75933225_75933230del	GRCh37
NC_000007.12:g.75771161_75771166del	NCBI36
NG_008995.1:g.6351_6356del , LRG_248:g.6351_6356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+43_428+48del MANE Select	ENSP00000248553.6:n.428+43_428+48del
ENST00000674547.1:c.*19+20_*19+25del	ENSP00000502461.1:n.*19+20_*19+25del
ENST00000674638.1:c.423+43_423+48del	ENSP00000502651.1:n.423+43_423+48del
ENST00000674650.1:c.365-76_365-71del	ENSP00000501628.1:n.365-76_365-71del
ENST00000674965.1:c.*84+43_*84+48del	ENSP00000501765.1:n.*84+43_*84+48del
ENST00000675134.1:c.407+64_407+69del	ENSP00000501831.1:n.407+64_407+69del
ENST00000675226.1:c.427+43_427+48del	ENSP00000502510.1:n.427+43_427+48del
ENST00000675417.1:n.704_709del
ENST00000675538.1:c.463+43_463+48del	ENSP00000502495.1:n.463+43_463+48del
ENST00000675906.1:c.*13+26_*13+31del	ENSP00000502714.1:n.*13+26_*13+31del
ENST00000676231.1:c.458+43_458+48del	ENSP00000502249.1:n.458+43_458+48del
ENST00000248553.6:c.428+43_428+48del	ENSP00000248553.6:n.428+43_428+48del
ENST00000429938.1:c.-77+43_-77+48del	ENSP00000405285.1:n.-77+43_-77+48del
ENST00000447574.1:c.*592+43_*592+48del	ENSP00000414357.1:n.*592+43_*592+48del
NM_001540.3:c.428+43_428+48del , LRG_248t1:c.428+43_428+48del	NP_001531.1:n.428+43_428+48del
NM_001540.4:c.428+43_428+48del	NP_001531.1:n.428+43_428+48del
NM_001540.5:c.428+43_428+48del MANE Select	NP_001531.1:n.428+43_428+48del