Canonical Allele Identifier: CA2600218579

Gene: HSPB1

Linked Data

• dbSNP Id: rs2117160827
• gnomAD v3: 7-76303726-A-AGGT
• gnomAD v4: 7-76303726-A-AGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303729_76303731dup , CM000669.2:g.76303729_76303731dup	GRCh38
NC_000007.13:g.75933046_75933048dup , CM000669.1:g.75933046_75933048dup	GRCh37
NC_000007.12:g.75770982_75770984dup	NCBI36
NG_008995.1:g.6172_6174dup , LRG_248:g.6172_6174dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-73_365-71dup MANE Select	ENSP00000248553.6:n.365-73_365-71dup
ENST00000674547.1:c.365-73_365-71dup	ENSP00000502461.1:n.365-73_365-71dup
ENST00000674638.1:c.365-78_365-76dup	ENSP00000502651.1:n.365-78_365-76dup
ENST00000674650.1:c.365-255_365-253dup	ENSP00000501628.1:n.365-255_365-253dup
ENST00000674965.1:c.365-48_365-46dup	ENSP00000501765.1:n.365-48_365-46dup
ENST00000675134.1:c.365-73_365-71dup	ENSP00000501831.1:n.365-73_365-71dup
ENST00000675226.1:c.369-78_369-76dup	ENSP00000502510.1:n.369-78_369-76dup
ENST00000675417.1:n.525_527dup
ENST00000675538.1:c.400-73_400-71dup	ENSP00000502495.1:n.400-73_400-71dup
ENST00000675733.1:n.405-33_405-31dup
ENST00000675906.1:c.365-73_365-71dup	ENSP00000502714.1:n.365-73_365-71dup
ENST00000676195.1:n.81-73_81-71dup
ENST00000676231.1:c.394+2_394+4dup
ENST00000248553.6:c.365-73_365-71dup	ENSP00000248553.6:n.365-73_365-71dup
ENST00000429938.1:c.-141+2_-141+4dup
ENST00000447574.1:c.*456_*458dup	ENSP00000414357.1:n.*456_*458dup
NM_001540.3:c.365-73_365-71dup , LRG_248t1:c.365-73_365-71dup	NP_001531.1:n.365-73_365-71dup
NM_001540.4:c.365-73_365-71dup	NP_001531.1:n.365-73_365-71dup
NM_001540.5:c.365-73_365-71dup MANE Select	NP_001531.1:n.365-73_365-71dup