Canonical Allele Identifier: CA658657677

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 465274
• ClinVar RCV Id: RCV000536499 ; RCV001027500
• dbSNP Id: rs1554614633
• gnomAD v4: 7-76303809-CGAG-C
• MyVariant Identifiers: chr7:g.75933130_75933132del (hg19) ; chr7:g.76303813_76303815del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303813_76303815del , CM000669.2:g.76303813_76303815del	GRCh38
NC_000007.13:g.75933130_75933132del , CM000669.1:g.75933130_75933132del	GRCh37
NC_000007.12:g.75771066_75771068del	NCBI36
NG_008995.1:g.6256_6258del , LRG_248:g.6256_6258del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.376_378del MANE Select	ENSP00000248553.6:p.Glu126del
ENST00000674547.1:c.376_378del	ENSP00000502461.1:p.Glu126del
ENST00000674638.1:c.371_373del	ENSP00000502651.1:p.Gly124del
ENST00000674650.1:c.365-171_365-169del	ENSP00000501628.1:n.365-171_365-169del
ENST00000674965.1:c.*32_*34del	ENSP00000501765.1:n.*32_*34del
ENST00000675134.1:c.376_378del	ENSP00000501831.1:p.Glu126del
ENST00000675226.1:c.375_377del	ENSP00000502510.1:p.Arg125del
ENST00000675417.1:n.609_611del
ENST00000675538.1:c.411_413del	ENSP00000502495.1:p.Arg137del
ENST00000675906.1:c.376_378del	ENSP00000502714.1:p.Glu126del
ENST00000676195.1:n.92_94del
ENST00000676231.1:c.406_408del	ENSP00000502249.1:p.Glu136del
ENST00000248553.6:c.376_378del	ENSP00000248553.6:p.Glu126del
ENST00000429938.1:c.-129_-127del	ENSP00000405285.1:n.-129_-127del
ENST00000447574.1:c.*540_*542del	ENSP00000414357.1:n.*540_*542del
NM_001540.3:c.376_378del , LRG_248t1:c.376_378del	NP_001531.1:p.Glu126del
NM_001540.4:c.376_378del	NP_001531.1:p.Glu126del
NM_001540.5:c.376_378del MANE Select	NP_001531.1:p.Glu126del