Canonical Allele Identifier: CA4306352

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 916741
• ClinVar RCV Id: RCV001172562 ; RCV002068056 ; RCV004538393
• dbSNP Id: rs759570569
• ExAC: 7:75933108 T / TC
• gnomAD v2: 7-75933108-T-TC
• gnomAD v4: 7-76303791-T-TC
• MyVariant Identifiers: chr7:g.75933109_75933110insC (hg19) ; chr7:g.75933108_75933109insC (hg19) ; chr7:g.76303792_76303793insC (hg38) ; chr7:g.76303791_76303792insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303797dup , CM000669.2:g.76303797dup	GRCh38
NC_000007.13:g.75933114dup , CM000669.1:g.75933114dup	GRCh37
NC_000007.12:g.75771050dup	NCBI36
NG_008995.1:g.6240dup , LRG_248:g.6240dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-5dup MANE Select	ENSP00000248553.6:n.365-5dup
ENST00000674547.1:c.365-5dup	ENSP00000502461.1:n.365-5dup
ENST00000674638.1:c.365-10dup	ENSP00000502651.1:n.365-10dup
ENST00000674650.1:c.365-187dup	ENSP00000501628.1:n.365-187dup
ENST00000674965.1:c.*16dup	ENSP00000501765.1:n.*16dup
ENST00000675134.1:c.365-5dup	ENSP00000501831.1:n.365-5dup
ENST00000675226.1:c.369-10dup	ENSP00000502510.1:n.369-10dup
ENST00000675417.1:n.593dup
ENST00000675538.1:c.400-5dup	ENSP00000502495.1:n.400-5dup
ENST00000675906.1:c.365-5dup	ENSP00000502714.1:n.365-5dup
ENST00000676195.1:n.81-5dup
ENST00000676231.1:c.395-5dup	ENSP00000502249.1:n.395-5dup
ENST00000248553.6:c.365-5dup	ENSP00000248553.6:n.365-5dup
ENST00000429938.1:c.-140-5dup	ENSP00000405285.1:n.-140-5dup
ENST00000447574.1:c.*524dup	ENSP00000414357.1:n.*524dup
NM_001540.3:c.365-5dup , LRG_248t1:c.365-5dup	NP_001531.1:n.365-5dup
NM_001540.4:c.365-5dup	NP_001531.1:n.365-5dup
NM_001540.5:c.365-5dup MANE Select	NP_001531.1:n.365-5dup