Canonical Allele Identifier: CA1718330539

Gene: HSPB1

Linked Data

• dbSNP Id: rs1803053208
• gnomAD v4: 7-76303673-A-AACCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303674_76303679dup , CM000669.2:g.76303674_76303679dup	GRCh38
NC_000007.13:g.75932991_75932996dup , CM000669.1:g.75932991_75932996dup	GRCh37
NC_000007.12:g.75770927_75770932dup	NCBI36
NG_008995.1:g.6117_6122dup , LRG_248:g.6117_6122dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-128_365-123dup MANE Select	ENSP00000248553.6:n.365-128_365-123dup
ENST00000674547.1:c.365-128_365-123dup	ENSP00000502461.1:n.365-128_365-123dup
ENST00000674638.1:c.365-133_365-128dup	ENSP00000502651.1:n.365-133_365-128dup
ENST00000674650.1:c.365-310_365-305dup	ENSP00000501628.1:n.365-310_365-305dup
ENST00000674965.1:c.365-103_365-98dup	ENSP00000501765.1:n.365-103_365-98dup
ENST00000675134.1:c.365-128_365-123dup	ENSP00000501831.1:n.365-128_365-123dup
ENST00000675226.1:c.369-133_369-128dup	ENSP00000502510.1:n.369-133_369-128dup
ENST00000675417.1:n.470_475dup
ENST00000675538.1:c.400-128_400-123dup	ENSP00000502495.1:n.400-128_400-123dup
ENST00000675733.1:n.405-88_405-83dup
ENST00000675906.1:c.365-128_365-123dup	ENSP00000502714.1:n.365-128_365-123dup
ENST00000676195.1:n.80+18_80+23dup
ENST00000676231.1:c.365-24_365-19dup	ENSP00000502249.1:n.365-24_365-19dup
ENST00000248553.6:c.365-128_365-123dup	ENSP00000248553.6:n.365-128_365-123dup
ENST00000429938.1:c.-194_-189dup	ENSP00000405285.1:n.-194_-189dup
ENST00000447574.1:c.*401_*406dup	ENSP00000414357.1:n.*401_*406dup
NM_001540.3:c.365-128_365-123dup , LRG_248t1:c.365-128_365-123dup	NP_001531.1:n.365-128_365-123dup
NM_001540.4:c.365-128_365-123dup	NP_001531.1:n.365-128_365-123dup
NM_001540.5:c.365-128_365-123dup MANE Select	NP_001531.1:n.365-128_365-123dup