Canonical Allele Identifier: CA4306399

Gene: HSPB1

Linked Data

• dbSNP Id: rs747751610
• ExAC: 7:75933219 G / GT
• gnomAD v2: 7-75933219-G-GT
• gnomAD v3: 7-76303902-G-GT
• gnomAD v4: 7-76303902-G-GT
• MyVariant Identifiers: chr7:g.75933219_75933220insT (hg19) ; chr7:g.76303902_76303903insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303903dup , CM000669.2:g.76303903dup	GRCh38
NC_000007.13:g.75933220dup , CM000669.1:g.75933220dup	GRCh37
NC_000007.12:g.75771156dup	NCBI36
NG_008995.1:g.6346dup , LRG_248:g.6346dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+38dup MANE Select	ENSP00000248553.6:n.428+38dup
ENST00000674547.1:c.*19+15dup	ENSP00000502461.1:n.*19+15dup
ENST00000674638.1:c.423+38dup	ENSP00000502651.1:n.423+38dup
ENST00000674650.1:c.365-81dup	ENSP00000501628.1:n.365-81dup
ENST00000674965.1:c.*84+38dup	ENSP00000501765.1:n.*84+38dup
ENST00000675134.1:c.407+59dup	ENSP00000501831.1:n.407+59dup
ENST00000675226.1:c.427+38dup	ENSP00000502510.1:n.427+38dup
ENST00000675417.1:n.699dup
ENST00000675538.1:c.463+38dup	ENSP00000502495.1:n.463+38dup
ENST00000675906.1:c.*13+21dup	ENSP00000502714.1:n.*13+21dup
ENST00000676231.1:c.458+38dup	ENSP00000502249.1:n.458+38dup
ENST00000248553.6:c.428+38dup	ENSP00000248553.6:n.428+38dup
ENST00000429938.1:c.-77+38dup	ENSP00000405285.1:n.-77+38dup
ENST00000447574.1:c.*592+38dup	ENSP00000414357.1:n.*592+38dup
NM_001540.3:c.428+38dup , LRG_248t1:c.428+38dup	NP_001531.1:n.428+38dup
NM_001540.4:c.428+38dup	NP_001531.1:n.428+38dup
NM_001540.5:c.428+38dup MANE Select	NP_001531.1:n.428+38dup