Canonical Allele Identifier: CA2683408218

Gene: HSPB1

Linked Data

• dbSNP Id: rs2117160919
• gnomAD v4: 7-76303767-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303772del , CM000669.2:g.76303772del	GRCh38
NC_000007.13:g.75933089del , CM000669.1:g.75933089del	GRCh37
NC_000007.12:g.75771025del	NCBI36
NG_008995.1:g.6215del , LRG_248:g.6215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-30del MANE Select	ENSP00000248553.6:n.365-30del
ENST00000674547.1:c.365-30del	ENSP00000502461.1:n.365-30del
ENST00000674638.1:c.365-35del	ENSP00000502651.1:n.365-35del
ENST00000674650.1:c.365-212del	ENSP00000501628.1:n.365-212del
ENST00000674965.1:c.365-5del	ENSP00000501765.1:n.365-5del
ENST00000675134.1:c.365-30del	ENSP00000501831.1:n.365-30del
ENST00000675226.1:c.369-35del	ENSP00000502510.1:n.369-35del
ENST00000675417.1:n.568del
ENST00000675538.1:c.400-30del	ENSP00000502495.1:n.400-30del
ENST00000675733.1:n.415del
ENST00000675906.1:c.365-30del	ENSP00000502714.1:n.365-30del
ENST00000676195.1:n.81-30del
ENST00000676231.1:c.395-30del	ENSP00000502249.1:n.395-30del
ENST00000248553.6:c.365-30del	ENSP00000248553.6:n.365-30del
ENST00000429938.1:c.-140-30del	ENSP00000405285.1:n.-140-30del
ENST00000447574.1:c.*499del	ENSP00000414357.1:n.*499del
NM_001540.3:c.365-30del , LRG_248t1:c.365-30del	NP_001531.1:n.365-30del
NM_001540.4:c.365-30del	NP_001531.1:n.365-30del
NM_001540.5:c.365-30del MANE Select	NP_001531.1:n.365-30del