Canonical Allele Identifier: CA2683408182

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303756-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303758del , CM000669.2:g.76303758del	GRCh38
NC_000007.13:g.75933075del , CM000669.1:g.75933075del	GRCh37
NC_000007.12:g.75771011del	NCBI36
NG_008995.1:g.6201del , LRG_248:g.6201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-44del MANE Select	ENSP00000248553.6:n.365-44del
ENST00000674547.1:c.365-44del	ENSP00000502461.1:n.365-44del
ENST00000674638.1:c.365-49del	ENSP00000502651.1:n.365-49del
ENST00000674650.1:c.365-226del	ENSP00000501628.1:n.365-226del
ENST00000674965.1:c.365-19del	ENSP00000501765.1:n.365-19del
ENST00000675134.1:c.365-44del	ENSP00000501831.1:n.365-44del
ENST00000675226.1:c.369-49del	ENSP00000502510.1:n.369-49del
ENST00000675417.1:n.554del
ENST00000675538.1:c.400-44del	ENSP00000502495.1:n.400-44del
ENST00000675733.1:n.405-4del
ENST00000675906.1:c.365-44del	ENSP00000502714.1:n.365-44del
ENST00000676195.1:n.81-44del
ENST00000676231.1:c.394+31del	ENSP00000502249.1:n.394+31del
ENST00000248553.6:c.365-44del	ENSP00000248553.6:n.365-44del
ENST00000429938.1:c.-141+31del	ENSP00000405285.1:n.-141+31del
ENST00000447574.1:c.*485del	ENSP00000414357.1:n.*485del
NM_001540.3:c.365-44del , LRG_248t1:c.365-44del	NP_001531.1:n.365-44del
NM_001540.4:c.365-44del	NP_001531.1:n.365-44del
NM_001540.5:c.365-44del MANE Select	NP_001531.1:n.365-44del