Canonical Allele Identifier: CA2580077375

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 1784219
• ClinVar RCV Id: RCV002417156

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76302714_76302715delinsCA , CM000669.2:g.76302714_76302715delinsCA	GRCh38
NC_000007.13:g.75932031_75932032delinsCA , CM000669.1:g.75932031_75932032delinsCA	GRCh37
NC_000007.12:g.75769967_75769968delinsCA	NCBI36
NG_008995.1:g.5157_5158delinsCA , LRG_248:g.5157_5158delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.2_3delinsCA MANE Select	ENSP00000248553.6:p.Met1Thr
ENST00000674547.1:c.2_3delinsCA	ENSP00000502461.1:p.Met1Thr
ENST00000674560.1:n.42_43delinsCA
ENST00000674638.1:c.2_3delinsCA	ENSP00000502651.1:p.Met1Thr
ENST00000674650.1:c.2_3delinsCA	ENSP00000501628.1:p.Met1Thr
ENST00000674965.1:c.2_3delinsCA	ENSP00000501765.1:p.Met1Thr
ENST00000675134.1:c.2_3delinsCA	ENSP00000501831.1:p.Met1Thr
ENST00000675226.1:c.2_3delinsCA	ENSP00000502510.1:p.Met1Thr
ENST00000675488.1:n.42_43delinsCA
ENST00000675538.1:c.2_3delinsCA	ENSP00000502495.1:p.Met1Thr
ENST00000675624.1:n.42_43delinsCA
ENST00000675733.1:n.42_43delinsCA
ENST00000675906.1:c.2_3delinsCA	ENSP00000502714.1:p.Met1Thr
ENST00000676231.1:c.2_3delinsCA	ENSP00000502249.1:p.Met1Thr
ENST00000676398.1:n.42_43delinsCA
ENST00000248553.6:c.2_3delinsCA	ENSP00000248553.6:p.Met1Thr
ENST00000447574.1:c.2_3delinsCA	ENSP00000414357.1:p.Met1Thr
NM_001540.3:c.2_3delinsCA , LRG_248t1:c.2_3delinsCA	NP_001531.1:p.Met1Thr
NM_001540.4:c.2_3delinsCA	NP_001531.1:p.Met1Thr
NM_001540.5:c.2_3delinsCA MANE Select	NP_001531.1:p.Met1Thr