Canonical Allele Identifier: CA575786678

Gene: HSPB1

Linked Data

• dbSNP Id: rs1362191347
• gnomAD v2: 7-75933220-T-TG
• gnomAD v3: 7-76303903-T-TG
• gnomAD v4: 7-76303903-T-TG
• MyVariant Identifiers: chr7:g.75933220_75933221insG (hg19) ; chr7:g.76303903_76303904insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303908dup , CM000669.2:g.76303908dup	GRCh38
NC_000007.13:g.75933225dup , CM000669.1:g.75933225dup	GRCh37
NC_000007.12:g.75771161dup	NCBI36
NG_008995.1:g.6351dup , LRG_248:g.6351dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+43dup MANE Select	ENSP00000248553.6:n.428+43dup
ENST00000674547.1:c.*19+20dup	ENSP00000502461.1:n.*19+20dup
ENST00000674638.1:c.423+43dup	ENSP00000502651.1:n.423+43dup
ENST00000674650.1:c.365-76dup	ENSP00000501628.1:n.365-76dup
ENST00000674965.1:c.*84+43dup	ENSP00000501765.1:n.*84+43dup
ENST00000675134.1:c.407+64dup	ENSP00000501831.1:n.407+64dup
ENST00000675226.1:c.427+43dup	ENSP00000502510.1:n.427+43dup
ENST00000675417.1:n.704dup
ENST00000675538.1:c.463+43dup	ENSP00000502495.1:n.463+43dup
ENST00000675906.1:c.*13+26dup	ENSP00000502714.1:n.*13+26dup
ENST00000676231.1:c.458+43dup	ENSP00000502249.1:n.458+43dup
ENST00000248553.6:c.428+43dup	ENSP00000248553.6:n.428+43dup
ENST00000429938.1:c.-77+43dup	ENSP00000405285.1:n.-77+43dup
ENST00000447574.1:c.*592+43dup	ENSP00000414357.1:n.*592+43dup
NM_001540.3:c.428+43dup , LRG_248t1:c.428+43dup	NP_001531.1:n.428+43dup
NM_001540.4:c.428+43dup	NP_001531.1:n.428+43dup
NM_001540.5:c.428+43dup MANE Select	NP_001531.1:n.428+43dup