Canonical Allele Identifier: CA2695207857

Gene: HSPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304102_76304104dup , CM000669.2:g.76304102_76304104dup	GRCh38
NC_000007.13:g.75933419_75933421dup , CM000669.1:g.75933419_75933421dup	GRCh37
NC_000007.12:g.75771355_75771357dup	NCBI36
NG_008995.1:g.6545_6547dup , LRG_248:g.6545_6547dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.547_549dup MANE Select	ENSP00000248553.6:p.Val183_Thr184insVal
ENST00000674547.1:c.*138_*140dup	ENSP00000502461.1:n.*138_*140dup
ENST00000674638.1:c.*68_*70dup	ENSP00000502651.1:n.*68_*70dup
ENST00000674650.1:c.*57_*59dup	ENSP00000501628.1:n.*57_*59dup
ENST00000674965.1:c.*203_*205dup	ENSP00000501765.1:n.*203_*205dup
ENST00000675134.1:c.526_528dup	ENSP00000501831.1:p.Val176_Thr177insVal
ENST00000675226.1:c.*57_*59dup	ENSP00000502510.1:n.*57_*59dup
ENST00000675417.1:n.898_900dup
ENST00000675538.1:c.*57_*59dup	ENSP00000502495.1:n.*57_*59dup
ENST00000675906.1:c.*132_*134dup	ENSP00000502714.1:n.*132_*134dup
ENST00000676231.1:c.577_579dup	ENSP00000502249.1:p.Val193_Thr194insVal
ENST00000248553.6:c.547_549dup	ENSP00000248553.6:p.Val183_Thr184insVal
ENST00000429938.1:c.43_45dup	ENSP00000405285.1:p.Val15_Thr16insVal
ENST00000447574.1:c.*711_*713dup	ENSP00000414357.1:n.*711_*713dup
NM_001540.3:c.547_549dup , LRG_248t1:c.547_549dup	NP_001531.1:p.Val183_Thr184insVal
NM_001540.4:c.547_549dup	NP_001531.1:p.Val183_Thr184insVal
NM_001540.5:c.547_549dup MANE Select	NP_001531.1:p.Val183_Thr184insVal