Canonical Allele Identifier: CA1718330653

Gene: HSPB1

Linked Data

• dbSNP Id: rs1803056267

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303743_76303752del , CM000669.2:g.76303743_76303752del	GRCh38
NC_000007.13:g.75933060_75933069del , CM000669.1:g.75933060_75933069del	GRCh37
NC_000007.12:g.75770996_75771005del	NCBI36
NG_008995.1:g.6186_6195del , LRG_248:g.6186_6195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-59_365-50del MANE Select	ENSP00000248553.6:n.365-59_365-50del
ENST00000674547.1:c.365-59_365-50del	ENSP00000502461.1:n.365-59_365-50del
ENST00000674638.1:c.365-64_365-55del	ENSP00000502651.1:n.365-64_365-55del
ENST00000674650.1:c.365-241_365-232del	ENSP00000501628.1:n.365-241_365-232del
ENST00000674965.1:c.365-34_365-25del	ENSP00000501765.1:n.365-34_365-25del
ENST00000675134.1:c.365-59_365-50del	ENSP00000501831.1:n.365-59_365-50del
ENST00000675226.1:c.369-64_369-55del	ENSP00000502510.1:n.369-64_369-55del
ENST00000675417.1:n.539_548del
ENST00000675538.1:c.400-59_400-50del	ENSP00000502495.1:n.400-59_400-50del
ENST00000675733.1:n.405-19_405-10del
ENST00000675906.1:c.365-59_365-50del	ENSP00000502714.1:n.365-59_365-50del
ENST00000676195.1:n.81-59_81-50del
ENST00000676231.1:c.394+16_394+25del	ENSP00000502249.1:n.394+16_394+25del
ENST00000248553.6:c.365-59_365-50del	ENSP00000248553.6:n.365-59_365-50del
ENST00000429938.1:c.-141+16_-141+25del	ENSP00000405285.1:n.-141+16_-141+25del
ENST00000447574.1:c.*470_*479del	ENSP00000414357.1:n.*470_*479del
NM_001540.3:c.365-59_365-50del , LRG_248t1:c.365-59_365-50del	NP_001531.1:n.365-59_365-50del
NM_001540.4:c.365-59_365-50del	NP_001531.1:n.365-59_365-50del
NM_001540.5:c.365-59_365-50del MANE Select	NP_001531.1:n.365-59_365-50del