Canonical Allele Identifier: CA2683408831

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303885-C-CGGGGTGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303886_76303893dup , CM000669.2:g.76303886_76303893dup	GRCh38
NC_000007.13:g.75933203_75933210dup , CM000669.1:g.75933203_75933210dup	GRCh37
NC_000007.12:g.75771139_75771146dup	NCBI36
NG_008995.1:g.6329_6336dup , LRG_248:g.6329_6336dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+21_428+28dup MANE Select	ENSP00000248553.6:n.428+21_428+28dup
ENST00000674547.1:c.*17_*19+5dup
ENST00000674638.1:c.423+21_423+28dup	ENSP00000502651.1:n.423+21_423+28dup
ENST00000674650.1:c.365-98_365-91dup	ENSP00000501628.1:n.365-98_365-91dup
ENST00000674965.1:c.*84+21_*84+28dup	ENSP00000501765.1:n.*84+21_*84+28dup
ENST00000675134.1:c.407+42_407+49dup	ENSP00000501831.1:n.407+42_407+49dup
ENST00000675226.1:c.427+21_427+28dup	ENSP00000502510.1:n.427+21_427+28dup
ENST00000675417.1:n.682_689dup
ENST00000675538.1:c.463+21_463+28dup	ENSP00000502495.1:n.463+21_463+28dup
ENST00000675906.1:c.*13+4_*13+11dup	ENSP00000502714.1:n.*13+4_*13+11dup
ENST00000676231.1:c.458+21_458+28dup	ENSP00000502249.1:n.458+21_458+28dup
ENST00000248553.6:c.428+21_428+28dup	ENSP00000248553.6:n.428+21_428+28dup
ENST00000429938.1:c.-77+21_-77+28dup	ENSP00000405285.1:n.-77+21_-77+28dup
ENST00000447574.1:c.*592+21_*592+28dup	ENSP00000414357.1:n.*592+21_*592+28dup
NM_001540.3:c.428+21_428+28dup , LRG_248t1:c.428+21_428+28dup	NP_001531.1:n.428+21_428+28dup
NM_001540.4:c.428+21_428+28dup	NP_001531.1:n.428+21_428+28dup
NM_001540.5:c.428+21_428+28dup MANE Select	NP_001531.1:n.428+21_428+28dup