Canonical Allele Identifier: CA2578916976
Gene: HSPB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303901_76303906del , CM000669.2:g.76303901_76303906del GRCh38
NC_000007.13:g.75933218_75933223del , CM000669.1:g.75933218_75933223del GRCh37
NC_000007.12:g.75771154_75771159del NCBI36
NG_008995.1:g.6344_6349del , LRG_248:g.6344_6349del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248553.7:c.428+36_428+41del MANE Select ENSP00000248553.6:n.428+36_428+41del
ENST00000674547.1:c.*19+13_*19+18del ENSP00000502461.1:n.*19+13_*19+18del
ENST00000674638.1:c.423+36_423+41del ENSP00000502651.1:n.423+36_423+41del
ENST00000674650.1:c.365-83_365-78del ENSP00000501628.1:n.365-83_365-78del
ENST00000674965.1:c.*84+36_*84+41del ENSP00000501765.1:n.*84+36_*84+41del
ENST00000675134.1:c.407+57_407+62del ENSP00000501831.1:n.407+57_407+62del
ENST00000675226.1:c.427+36_427+41del ENSP00000502510.1:n.427+36_427+41del
ENST00000675417.1:n.697_702del
ENST00000675538.1:c.463+36_463+41del ENSP00000502495.1:n.463+36_463+41del
ENST00000675906.1:c.*13+19_*13+24del ENSP00000502714.1:n.*13+19_*13+24del
ENST00000676231.1:c.458+36_458+41del ENSP00000502249.1:n.458+36_458+41del
ENST00000248553.6:c.428+36_428+41del ENSP00000248553.6:n.428+36_428+41del
ENST00000429938.1:c.-77+36_-77+41del ENSP00000405285.1:n.-77+36_-77+41del
ENST00000447574.1:c.*592+36_*592+41del ENSP00000414357.1:n.*592+36_*592+41del
NM_001540.3:c.428+36_428+41del , LRG_248t1:c.428+36_428+41del NP_001531.1:n.428+36_428+41del
NM_001540.4:c.428+36_428+41del NP_001531.1:n.428+36_428+41del
NM_001540.5:c.428+36_428+41del MANE Select NP_001531.1:n.428+36_428+41del