Canonical Allele Identifier: CA2683408691

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303865-CGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303867_76303868del , CM000669.2:g.76303867_76303868del	GRCh38
NC_000007.13:g.75933184_75933185del , CM000669.1:g.75933184_75933185del	GRCh37
NC_000007.12:g.75771120_75771121del	NCBI36
NG_008995.1:g.6310_6311del , LRG_248:g.6310_6311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+2_428+3del MANE Select	ENSP00000248553.6:n.428+2_428+3del
ENST00000674547.1:c.430_431del	ENSP00000502461.1:p.Ter144SerextTer?
ENST00000674638.1:c.423+2_423+3del	ENSP00000502651.1:n.423+2_423+3del
ENST00000674650.1:c.365-117_365-116del	ENSP00000501628.1:n.365-117_365-116del
ENST00000674965.1:c.*84+2_*84+3del	ENSP00000501765.1:n.*84+2_*84+3del
ENST00000675134.1:c.407+23_407+24del	ENSP00000501831.1:n.407+23_407+24del
ENST00000675226.1:c.427+2_427+3del	ENSP00000502510.1:n.427+2_427+3del
ENST00000675417.1:n.663_664del
ENST00000675538.1:c.463+2_463+3del	ENSP00000502495.1:n.463+2_463+3del
ENST00000675906.1:c.430_431del	ENSP00000502714.1:p.Ter144SerextTer?
ENST00000676231.1:c.458+2_458+3del	ENSP00000502249.1:n.458+2_458+3del
ENST00000248553.6:c.428+2_428+3del	ENSP00000248553.6:n.428+2_428+3del
ENST00000429938.1:c.-77+2_-77+3del	ENSP00000405285.1:n.-77+2_-77+3del
ENST00000447574.1:c.*592+2_*592+3del	ENSP00000414357.1:n.*592+2_*592+3del
NM_001540.3:c.428+2_428+3del , LRG_248t1:c.428+2_428+3del	NP_001531.1:n.428+2_428+3del
NM_001540.4:c.428+2_428+3del	NP_001531.1:n.428+2_428+3del
NM_001540.5:c.428+2_428+3del MANE Select	NP_001531.1:n.428+2_428+3del