Canonical Allele Identifier: CA1718330551

Gene: HSPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303677_76303685delinsCCCTCTGTT , CM000669.2:g.76303677_76303685delinsCCCTCTGTT	GRCh38
NC_000007.13:g.75932994_75933002delinsCCCTCTGTT , CM000669.1:g.75932994_75933002delinsCCCTCTGTT	GRCh37
NC_000007.12:g.75770930_75770938delinsCCCTCTGTT	NCBI36
NG_008995.1:g.6120_6128delinsCCCTCTGTT , LRG_248:g.6120_6128delinsCCCTCTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-125_365-117delinsCCCTCTGTT MANE Select	ENSP00000248553.6:n.365-125_365-117delinsCCCTCTGTT
ENST00000674547.1:c.365-125_365-117delinsCCCTCTGTT	ENSP00000502461.1:n.365-125_365-117delinsCCCTCTGTT
ENST00000674638.1:c.365-130_365-122delinsCCCTCTGTT	ENSP00000502651.1:n.365-130_365-122delinsCCCTCTGTT
ENST00000674650.1:c.365-307_365-299delinsCCCTCTGTT	ENSP00000501628.1:n.365-307_365-299delinsCCCTCTGTT
ENST00000674965.1:c.365-100_365-92delinsCCCTCTGTT	ENSP00000501765.1:n.365-100_365-92delinsCCCTCTGTT
ENST00000675134.1:c.365-125_365-117delinsCCCTCTGTT	ENSP00000501831.1:n.365-125_365-117delinsCCCTCTGTT
ENST00000675226.1:c.369-130_369-122delinsCCCTCTGTT	ENSP00000502510.1:n.369-130_369-122delinsCCCTCTGTT
ENST00000675417.1:n.473_481delinsCCCTCTGTT
ENST00000675538.1:c.400-125_400-117delinsCCCTCTGTT	ENSP00000502495.1:n.400-125_400-117delinsCCCTCTGTT
ENST00000675733.1:n.405-85_405-77delinsCCCTCTGTT
ENST00000675906.1:c.365-125_365-117delinsCCCTCTGTT	ENSP00000502714.1:n.365-125_365-117delinsCCCTCTGTT
ENST00000676195.1:n.80+21_80+29delinsCCCTCTGTT
ENST00000676231.1:c.365-21_365-13delinsCCCTCTGTT	ENSP00000502249.1:n.365-21_365-13delinsCCCTCTGTT
ENST00000248553.6:c.365-125_365-117delinsCCCTCTGTT	ENSP00000248553.6:n.365-125_365-117delinsCCCTCTGTT
ENST00000429938.1:c.-191_-183delinsCCCTCTGTT	ENSP00000405285.1:n.-191_-183delinsCCCTCTGTT
ENST00000447574.1:c.*404_*412delinsCCCTCTGTT	ENSP00000414357.1:n.*404_*412delinsCCCTCTGTT
NM_001540.3:c.365-125_365-117delinsCCCTCTGTT , LRG_248t1:c.365-125_365-117delinsCCCTCTGTT	NP_001531.1:n.365-125_365-117delinsCCCTCTGTT
NM_001540.4:c.365-125_365-117delinsCCCTCTGTT	NP_001531.1:n.365-125_365-117delinsCCCTCTGTT
NM_001540.5:c.365-125_365-117delinsCCCTCTGTT MANE Select	NP_001531.1:n.365-125_365-117delinsCCCTCTGTT