Canonical Allele Identifier: CA4306391

Gene: HSPB1

Linked Data

• dbSNP Id: rs36071791
• ExAC: 7:75933203 G / GGGGT
• gnomAD v2: 7-75933203-G-GGGGT
• gnomAD v3: 7-76303886-G-GGGGT
• gnomAD v4: 7-76303886-G-GGGGT
• MyVariant Identifiers: chr7:g.75933207_75933208insGGGT (hg19) ; chr7:g.75933203_75933204insGGGT (hg19) ; chr7:g.76303890_76303891insGGGT (hg38) ; chr7:g.76303886_76303887insGGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303897_76303900dup , CM000669.2:g.76303897_76303900dup	GRCh38
NC_000007.13:g.75933214_75933217dup , CM000669.1:g.75933214_75933217dup	GRCh37
NC_000007.12:g.75771150_75771153dup	NCBI36
NG_008995.1:g.6340_6343dup , LRG_248:g.6340_6343dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+32_428+35dup MANE Select	ENSP00000248553.6:n.428+32_428+35dup
ENST00000674547.1:c.*19+9_*19+12dup
ENST00000674638.1:c.423+32_423+35dup	ENSP00000502651.1:n.423+32_423+35dup
ENST00000674650.1:c.365-87_365-84dup	ENSP00000501628.1:n.365-87_365-84dup
ENST00000674965.1:c.*84+32_*84+35dup	ENSP00000501765.1:n.*84+32_*84+35dup
ENST00000675134.1:c.407+53_407+56dup	ENSP00000501831.1:n.407+53_407+56dup
ENST00000675226.1:c.427+32_427+35dup	ENSP00000502510.1:n.427+32_427+35dup
ENST00000675417.1:n.693_696dup
ENST00000675538.1:c.463+32_463+35dup	ENSP00000502495.1:n.463+32_463+35dup
ENST00000675906.1:c.*13+15_*13+18dup	ENSP00000502714.1:n.*13+15_*13+18dup
ENST00000676231.1:c.458+32_458+35dup	ENSP00000502249.1:n.458+32_458+35dup
ENST00000248553.6:c.428+32_428+35dup	ENSP00000248553.6:n.428+32_428+35dup
ENST00000429938.1:c.-77+32_-77+35dup	ENSP00000405285.1:n.-77+32_-77+35dup
ENST00000447574.1:c.*592+32_*592+35dup	ENSP00000414357.1:n.*592+32_*592+35dup
NM_001540.3:c.428+32_428+35dup , LRG_248t1:c.428+32_428+35dup	NP_001531.1:n.428+32_428+35dup
NM_001540.4:c.428+32_428+35dup	NP_001531.1:n.428+32_428+35dup
NM_001540.5:c.428+32_428+35dup MANE Select	NP_001531.1:n.428+32_428+35dup