Canonical Allele Identifier: CA4306342

Gene: HSPB1

Linked Data

• dbSNP Id: rs776712026
• ExAC: 7:75933085 C / CGAGG
• gnomAD v2: 7-75933085-C-CGAGG
• MyVariant Identifiers: chr7:g.75933085_75933086insGAGG (hg19) ; chr7:g.76303768_76303769insGAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303768_76303769insGAGG , CM000669.2:g.76303768_76303769insGAGG	GRCh38
NC_000007.13:g.75933085_75933086insGAGG , CM000669.1:g.75933085_75933086insGAGG	GRCh37
NC_000007.12:g.75771021_75771022insGAGG	NCBI36
NG_008995.1:g.6211_6212insGAGG , LRG_248:g.6211_6212insGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-34_365-33insGAGG MANE Select	ENSP00000248553.6:n.365-34_365-33insGAGG
ENST00000674547.1:c.365-34_365-33insGAGG	ENSP00000502461.1:n.365-34_365-33insGAGG
ENST00000674638.1:c.365-39_365-38insGAGG	ENSP00000502651.1:n.365-39_365-38insGAGG
ENST00000674650.1:c.365-216_365-215insGAGG	ENSP00000501628.1:n.365-216_365-215insGAGG
ENST00000674965.1:c.365-9_365-8insGAGG	ENSP00000501765.1:n.365-9_365-8insGAGG
ENST00000675134.1:c.365-34_365-33insGAGG	ENSP00000501831.1:n.365-34_365-33insGAGG
ENST00000675226.1:c.369-39_369-38insGAGG	ENSP00000502510.1:n.369-39_369-38insGAGG
ENST00000675417.1:n.564_565insGAGG
ENST00000675538.1:c.400-34_400-33insGAGG	ENSP00000502495.1:n.400-34_400-33insGAGG
ENST00000675733.1:n.411_412insGAGG
ENST00000675906.1:c.365-34_365-33insGAGG	ENSP00000502714.1:n.365-34_365-33insGAGG
ENST00000676195.1:n.81-34_81-33insGAGG
ENST00000676231.1:c.395-34_395-33insGAGG	ENSP00000502249.1:n.395-34_395-33insGAGG
ENST00000248553.6:c.365-34_365-33insGAGG	ENSP00000248553.6:n.365-34_365-33insGAGG
ENST00000429938.1:c.-140-34_-140-33insGAGG	ENSP00000405285.1:n.-140-34_-140-33insGAGG
ENST00000447574.1:c.*495_*496insGAGG	ENSP00000414357.1:n.*495_*496insGAGG
NM_001540.3:c.365-34_365-33insGAGG , LRG_248t1:c.365-34_365-33insGAGG	NP_001531.1:n.365-34_365-33insGAGG
NM_001540.4:c.365-34_365-33insGAGG	NP_001531.1:n.365-34_365-33insGAGG
NM_001540.5:c.365-34_365-33insGAGG MANE Select	NP_001531.1:n.365-34_365-33insGAGG