Canonical Allele Identifier: CA2776556429
Gene: HSPB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303770_76303772dup , CM000669.2:g.76303770_76303772dup GRCh38
NC_000007.13:g.75933087_75933089dup , CM000669.1:g.75933087_75933089dup GRCh37
NC_000007.12:g.75771023_75771025dup NCBI36
NG_008995.1:g.6213_6215dup , LRG_248:g.6213_6215dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000248553.7:c.365-32_365-30dup MANE Select ENSP00000248553.6:n.365-32_365-30dup
ENST00000674547.1:c.365-32_365-30dup ENSP00000502461.1:n.365-32_365-30dup
ENST00000674638.1:c.365-37_365-35dup ENSP00000502651.1:n.365-37_365-35dup
ENST00000674650.1:c.365-214_365-212dup ENSP00000501628.1:n.365-214_365-212dup
ENST00000674965.1:c.365-7_365-5dup ENSP00000501765.1:n.365-7_365-5dup
ENST00000675134.1:c.365-32_365-30dup ENSP00000501831.1:n.365-32_365-30dup
ENST00000675226.1:c.369-37_369-35dup ENSP00000502510.1:n.369-37_369-35dup
ENST00000675417.1:n.566_568dup
ENST00000675538.1:c.400-32_400-30dup ENSP00000502495.1:n.400-32_400-30dup
ENST00000675733.1:n.413_415dup
ENST00000675906.1:c.365-32_365-30dup ENSP00000502714.1:n.365-32_365-30dup
ENST00000676195.1:n.81-32_81-30dup
ENST00000676231.1:c.395-32_395-30dup ENSP00000502249.1:n.395-32_395-30dup
ENST00000248553.6:c.365-32_365-30dup ENSP00000248553.6:n.365-32_365-30dup
ENST00000429938.1:c.-140-32_-140-30dup ENSP00000405285.1:n.-140-32_-140-30dup
ENST00000447574.1:c.*497_*499dup ENSP00000414357.1:n.*497_*499dup
NM_001540.3:c.365-32_365-30dup , LRG_248t1:c.365-32_365-30dup NP_001531.1:n.365-32_365-30dup
NM_001540.4:c.365-32_365-30dup NP_001531.1:n.365-32_365-30dup
NM_001540.5:c.365-32_365-30dup MANE Select NP_001531.1:n.365-32_365-30dup