Canonical Allele Identifier: CA4306359

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 1505297
• ClinVar RCV Id: RCV002020503
• dbSNP Id: rs752802110
• ExAC: 7:75933113 CCA / C
• gnomAD v2: 7-75933113-CCA-C
• gnomAD v3: 7-76303796-CCA-C
• gnomAD v4: 7-76303796-CCA-C
• MyVariant Identifiers: chr7:g.75933114_75933115del (hg19) ; chr7:g.76303797_76303798del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303797_76303798del , CM000669.2:g.76303797_76303798del	GRCh38
NC_000007.13:g.75933114_75933115del , CM000669.1:g.75933114_75933115del	GRCh37
NC_000007.12:g.75771050_75771051del	NCBI36
NG_008995.1:g.6240_6241del , LRG_248:g.6240_6241del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-5_365-4del MANE Select	ENSP00000248553.6:n.365-5_365-4del
ENST00000674547.1:c.365-5_365-4del	ENSP00000502461.1:n.365-5_365-4del
ENST00000674638.1:c.365-10_365-9del	ENSP00000502651.1:n.365-10_365-9del
ENST00000674650.1:c.365-187_365-186del	ENSP00000501628.1:n.365-187_365-186del
ENST00000674965.1:c.*16_*17del	ENSP00000501765.1:n.*16_*17del
ENST00000675134.1:c.365-5_365-4del	ENSP00000501831.1:n.365-5_365-4del
ENST00000675226.1:c.369-10_369-9del	ENSP00000502510.1:n.369-10_369-9del
ENST00000675417.1:n.593_594del
ENST00000675538.1:c.400-5_400-4del	ENSP00000502495.1:n.400-5_400-4del
ENST00000675906.1:c.365-5_365-4del	ENSP00000502714.1:n.365-5_365-4del
ENST00000676195.1:n.81-5_81-4del
ENST00000676231.1:c.395-5_395-4del	ENSP00000502249.1:n.395-5_395-4del
ENST00000248553.6:c.365-5_365-4del	ENSP00000248553.6:n.365-5_365-4del
ENST00000429938.1:c.-140-5_-140-4del	ENSP00000405285.1:n.-140-5_-140-4del
ENST00000447574.1:c.*524_*525del	ENSP00000414357.1:n.*524_*525del
NM_001540.3:c.365-5_365-4del , LRG_248t1:c.365-5_365-4del	NP_001531.1:n.365-5_365-4del
NM_001540.4:c.365-5_365-4del	NP_001531.1:n.365-5_365-4del
NM_001540.5:c.365-5_365-4del MANE Select	NP_001531.1:n.365-5_365-4del