Canonical Allele Identifier: CA2578916978

Gene: HSPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303901_76303904del , CM000669.2:g.76303901_76303904del	GRCh38
NC_000007.13:g.75933218_75933221del , CM000669.1:g.75933218_75933221del	GRCh37
NC_000007.12:g.75771154_75771157del	NCBI36
NG_008995.1:g.6344_6347del , LRG_248:g.6344_6347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+36_428+39del MANE Select	ENSP00000248553.6:n.428+36_428+39del
ENST00000674547.1:c.*19+13_*19+16del	ENSP00000502461.1:n.*19+13_*19+16del
ENST00000674638.1:c.423+36_423+39del	ENSP00000502651.1:n.423+36_423+39del
ENST00000674650.1:c.365-83_365-80del	ENSP00000501628.1:n.365-83_365-80del
ENST00000674965.1:c.*84+36_*84+39del	ENSP00000501765.1:n.*84+36_*84+39del
ENST00000675134.1:c.407+57_407+60del	ENSP00000501831.1:n.407+57_407+60del
ENST00000675226.1:c.427+36_427+39del	ENSP00000502510.1:n.427+36_427+39del
ENST00000675417.1:n.697_700del
ENST00000675538.1:c.463+36_463+39del	ENSP00000502495.1:n.463+36_463+39del
ENST00000675906.1:c.*13+19_*13+22del	ENSP00000502714.1:n.*13+19_*13+22del
ENST00000676231.1:c.458+36_458+39del	ENSP00000502249.1:n.458+36_458+39del
ENST00000248553.6:c.428+36_428+39del	ENSP00000248553.6:n.428+36_428+39del
ENST00000429938.1:c.-77+36_-77+39del	ENSP00000405285.1:n.-77+36_-77+39del
ENST00000447574.1:c.*592+36_*592+39del	ENSP00000414357.1:n.*592+36_*592+39del
NM_001540.3:c.428+36_428+39del , LRG_248t1:c.428+36_428+39del	NP_001531.1:n.428+36_428+39del
NM_001540.4:c.428+36_428+39del	NP_001531.1:n.428+36_428+39del
NM_001540.5:c.428+36_428+39del MANE Select	NP_001531.1:n.428+36_428+39del