Canonical Allele Identifier: CA2683409117

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76304099-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304100_76304101del , CM000669.2:g.76304100_76304101del	GRCh38
NC_000007.13:g.75933417_75933418del , CM000669.1:g.75933417_75933418del	GRCh37
NC_000007.12:g.75771353_75771354del	NCBI36
NG_008995.1:g.6543_6544del , LRG_248:g.6543_6544del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.545_546del MANE Select	ENSP00000248553.6:p.Pro182ArgfsTer19
ENST00000674547.1:c.*136_*137del	ENSP00000502461.1:n.*136_*137del
ENST00000674638.1:c.*66_*67del	ENSP00000502651.1:n.*66_*67del
ENST00000674650.1:c.*55_*56del	ENSP00000501628.1:n.*55_*56del
ENST00000674965.1:c.*201_*202del	ENSP00000501765.1:n.*201_*202del
ENST00000675134.1:c.524_525del	ENSP00000501831.1:p.Pro175ArgfsTer19
ENST00000675226.1:c.*55_*56del	ENSP00000502510.1:n.*55_*56del
ENST00000675417.1:n.896_897del
ENST00000675538.1:c.*55_*56del	ENSP00000502495.1:n.*55_*56del
ENST00000675906.1:c.*130_*131del	ENSP00000502714.1:n.*130_*131del
ENST00000676231.1:c.575_576del	ENSP00000502249.1:p.Pro192ArgfsTer19
ENST00000248553.6:c.545_546del	ENSP00000248553.6:p.Pro182ArgfsTer19
ENST00000429938.1:c.41_42del	ENSP00000405285.1:p.Pro14ArgfsTer19
ENST00000447574.1:c.*709_*710del	ENSP00000414357.1:n.*709_*710del
NM_001540.3:c.545_546del , LRG_248t1:c.545_546del	NP_001531.1:p.Pro182ArgfsTer19
NM_001540.4:c.545_546del	NP_001531.1:p.Pro182ArgfsTer19
NM_001540.5:c.545_546del MANE Select	NP_001531.1:p.Pro182ArgfsTer19