Canonical Allele Identifier: CA2683406620

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76302926-GCCTACAGCCGCGCGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76302928_76302943del , CM000669.2:g.76302928_76302943del	GRCh38
NC_000007.13:g.75932245_75932260del , CM000669.1:g.75932245_75932260del	GRCh37
NC_000007.12:g.75770181_75770196del	NCBI36
NG_008995.1:g.5371_5386del , LRG_248:g.5371_5386del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.216_231del MANE Select	ENSP00000248553.6:p.Tyr73AlafsTer?
ENST00000674547.1:c.216_231del	ENSP00000502461.1:p.Tyr73AlafsTer?
ENST00000674560.1:n.256_271del
ENST00000674638.1:c.216_231del	ENSP00000502651.1:p.Tyr73AlafsTer?
ENST00000674650.1:c.216_231del	ENSP00000501628.1:p.Tyr73AlafsTer?
ENST00000674965.1:c.216_231del	ENSP00000501765.1:p.Tyr73AlafsTer?
ENST00000675134.1:c.216_231del	ENSP00000501831.1:p.Tyr73AlafsTer?
ENST00000675226.1:c.216_231del	ENSP00000502510.1:p.Tyr73AlafsTer?
ENST00000675488.1:n.256_271del
ENST00000675538.1:c.216_231del	ENSP00000502495.1:p.Tyr73AlafsTer?
ENST00000675624.1:n.256_271del
ENST00000675733.1:n.256_271del
ENST00000675906.1:c.216_231del	ENSP00000502714.1:p.Tyr73AlafsTer?
ENST00000676231.1:c.216_231del	ENSP00000502249.1:p.Tyr73AlafsTer?
ENST00000676398.1:n.256_271del
ENST00000248553.6:c.216_231del	ENSP00000248553.6:p.Tyr73AlafsTer?
ENST00000447574.1:c.216_231del	ENSP00000414357.1:p.Tyr73AlafsTer?
NM_001540.3:c.216_231del , LRG_248t1:c.216_231del	NP_001531.1:p.Tyr73AlafsTer?
NM_001540.4:c.216_231del	NP_001531.1:p.Tyr73AlafsTer?
NM_001540.5:c.216_231del MANE Select	NP_001531.1:p.Tyr73AlafsTer?