Canonical Allele Identifier: CA2683408665

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303857-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303860del , CM000669.2:g.76303860del	GRCh38
NC_000007.13:g.75933177del , CM000669.1:g.75933177del	GRCh37
NC_000007.12:g.75771113del	NCBI36
NG_008995.1:g.6303del , LRG_248:g.6303del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.423del MANE Select	ENSP00000248553.6:p.Lys141AsnfsTer23
ENST00000674547.1:c.423del	ENSP00000502461.1:p.Lys141AsnfsTer27
ENST00000674638.1:c.418del	ENSP00000502651.1:p.Ile140TyrfsTer?
ENST00000674650.1:c.365-124del	ENSP00000501628.1:n.365-124del
ENST00000674965.1:c.*79del	ENSP00000501765.1:n.*79del
ENST00000675134.1:c.407+16del	ENSP00000501831.1:n.407+16del
ENST00000675226.1:c.422del	ENSP00000502510.1:p.Asn141IlefsTer19
ENST00000675417.1:n.656del
ENST00000675538.1:c.458del	ENSP00000502495.1:p.Asn153IlefsTer19
ENST00000675906.1:c.423del	ENSP00000502714.1:p.Lys141AsnfsTer25
ENST00000676195.1:n.139del
ENST00000676231.1:c.453del	ENSP00000502249.1:p.Lys151AsnfsTer23
ENST00000248553.6:c.423del	ENSP00000248553.6:p.Lys141AsnfsTer23
ENST00000429938.1:c.-82del	ENSP00000405285.1:n.-82del
ENST00000447574.1:c.*587del	ENSP00000414357.1:n.*587del
NM_001540.3:c.423del , LRG_248t1:c.423del	NP_001531.1:p.Lys141AsnfsTer23
NM_001540.4:c.423del	NP_001531.1:p.Lys141AsnfsTer23
NM_001540.5:c.423del MANE Select	NP_001531.1:p.Lys141AsnfsTer23