Canonical Allele Identifier: CA2683407916

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303668-TCCCCAACCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303670_76303679del , CM000669.2:g.76303670_76303679del	GRCh38
NC_000007.13:g.75932987_75932996del , CM000669.1:g.75932987_75932996del	GRCh37
NC_000007.12:g.75770923_75770932del	NCBI36
NG_008995.1:g.6113_6122del , LRG_248:g.6113_6122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-132_365-123del MANE Select	ENSP00000248553.6:n.365-132_365-123del
ENST00000674547.1:c.365-132_365-123del	ENSP00000502461.1:n.365-132_365-123del
ENST00000674638.1:c.365-137_365-128del	ENSP00000502651.1:n.365-137_365-128del
ENST00000674650.1:c.365-314_365-305del	ENSP00000501628.1:n.365-314_365-305del
ENST00000674965.1:c.365-107_365-98del	ENSP00000501765.1:n.365-107_365-98del
ENST00000675134.1:c.365-132_365-123del	ENSP00000501831.1:n.365-132_365-123del
ENST00000675226.1:c.369-137_369-128del	ENSP00000502510.1:n.369-137_369-128del
ENST00000675417.1:n.466_475del
ENST00000675538.1:c.400-132_400-123del	ENSP00000502495.1:n.400-132_400-123del
ENST00000675733.1:n.405-92_405-83del
ENST00000675906.1:c.365-132_365-123del	ENSP00000502714.1:n.365-132_365-123del
ENST00000676195.1:n.80+14_80+23del
ENST00000676231.1:c.365-28_365-19del	ENSP00000502249.1:n.365-28_365-19del
ENST00000248553.6:c.365-132_365-123del	ENSP00000248553.6:n.365-132_365-123del
ENST00000429938.1:c.-198_-189del	ENSP00000405285.1:n.-198_-189del
ENST00000447574.1:c.*397_*406del	ENSP00000414357.1:n.*397_*406del
NM_001540.3:c.365-132_365-123del , LRG_248t1:c.365-132_365-123del	NP_001531.1:n.365-132_365-123del
NM_001540.4:c.365-132_365-123del	NP_001531.1:n.365-132_365-123del
NM_001540.5:c.365-132_365-123del MANE Select	NP_001531.1:n.365-132_365-123del