Canonical Allele Identifier: CA575786713

Gene: HSPB1

Linked Data

• dbSNP Id: rs1310351656
• gnomAD v2: 7-75933011-CCAGCCTGCAGTCCTG-C
• gnomAD v3: 7-76303694-CCAGCCTGCAGTCCTG-C
• gnomAD v4: 7-76303694-CCAGCCTGCAGTCCTG-C
• MyVariant Identifiers: chr7:g.75933012_75933026del (hg19) ; chr7:g.76303695_76303709del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303695_76303709del , CM000669.2:g.76303695_76303709del	GRCh38
NC_000007.13:g.75933012_75933026del , CM000669.1:g.75933012_75933026del	GRCh37
NC_000007.12:g.75770948_75770962del	NCBI36
NG_008995.1:g.6138_6152del , LRG_248:g.6138_6152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-107_365-93del MANE Select	ENSP00000248553.6:n.365-107_365-93del
ENST00000674547.1:c.365-107_365-93del	ENSP00000502461.1:n.365-107_365-93del
ENST00000674638.1:c.365-112_365-98del	ENSP00000502651.1:n.365-112_365-98del
ENST00000674650.1:c.365-289_365-275del	ENSP00000501628.1:n.365-289_365-275del
ENST00000674965.1:c.365-82_365-68del	ENSP00000501765.1:n.365-82_365-68del
ENST00000675134.1:c.365-107_365-93del	ENSP00000501831.1:n.365-107_365-93del
ENST00000675226.1:c.369-112_369-98del	ENSP00000502510.1:n.369-112_369-98del
ENST00000675417.1:n.491_505del
ENST00000675538.1:c.400-107_400-93del	ENSP00000502495.1:n.400-107_400-93del
ENST00000675733.1:n.405-67_405-53del
ENST00000675906.1:c.365-107_365-93del	ENSP00000502714.1:n.365-107_365-93del
ENST00000676195.1:n.80+39_80+53del
ENST00000676231.1:c.365-3_376del
ENST00000248553.6:c.365-107_365-93del	ENSP00000248553.6:n.365-107_365-93del
ENST00000429938.1:c.-173_-159del	ENSP00000405285.1:n.-173_-159del
ENST00000447574.1:c.*422_*436del	ENSP00000414357.1:n.*422_*436del
NM_001540.3:c.365-107_365-93del , LRG_248t1:c.365-107_365-93del	NP_001531.1:n.365-107_365-93del
NM_001540.4:c.365-107_365-93del	NP_001531.1:n.365-107_365-93del
NM_001540.5:c.365-107_365-93del MANE Select	NP_001531.1:n.365-107_365-93del