Canonical Allele Identifier: CA521293298

Gene: HSPB7

Linked Data

• dbSNP Id: rs1219065245
• gnomAD v2: 1-16343183-ACCCGCATCCGCC-A
• gnomAD v3: 1-16016688-ACCCGCATCCGCC-A
• gnomAD v4: 1-16016688-ACCCGCATCCGCC-A
• MyVariant Identifiers: chr1:g.16343184_16343195del (hg19) ; chr1:g.16016689_16016700del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16016692_16016703del , CM000663.2:g.16016692_16016703del	GRCh38
NC_000001.10:g.16343187_16343198del , CM000663.1:g.16343187_16343198del	GRCh37
NC_000001.9:g.16215774_16215785del	NCBI36
NG_053133.1:g.7097_7108del

Transcript Alleles

HGVS	Amino-acid change
ENST00000311890.14:c.333+374_333+385del MANE Select	ENSP00000310111.9:n.333+374_333+385del
ENST00000311890.13:c.333+374_333+385del	ENSP00000310111.9:n.333+374_333+385del
ENST00000375718.4:c.558+374_558+385del	ENSP00000364870.4:n.558+374_558+385del
ENST00000406363.2:c.345+374_345+385del	ENSP00000385472.2:n.345+374_345+385del
ENST00000411503.5:c.318+389_318+400del	ENSP00000391578.1:n.318+389_318+400del
ENST00000442459.2:n.970+374_970+385del
ENST00000463576.5:c.195+389_195+400del	ENSP00000417966.1:n.195+389_195+400del
ENST00000487046.1:c.348+374_348+385del	ENSP00000419477.1:n.348+374_348+385del
NM_014424.4:c.333+374_333+385del	NP_055239.1:n.333+374_333+385del
XM_011541249.1:c.612+374_612+385del	XP_011539551.1:n.612+374_612+385del
XM_011541250.1:c.609+374_609+385del	XP_011539552.1:n.609+374_609+385del
NM_001349682.1:c.558+374_558+385del	NP_001336611.1:n.558+374_558+385del
NM_001349683.1:c.345+374_345+385del	NP_001336612.1:n.345+374_345+385del
NM_001349685.1:c.315+374_315+385del	NP_001336614.1:n.315+374_315+385del
NM_001349686.1:c.333+374_333+385del	NP_001336615.1:n.333+374_333+385del
NM_001349687.1:c.318+389_318+400del	NP_001336616.1:n.318+389_318+400del
NM_001349688.1:c.330+389_330+400del	NP_001336617.1:n.330+389_330+400del
NM_001349689.1:c.348+374_348+385del	NP_001336618.1:n.348+374_348+385del
NM_001349682.2:c.558+374_558+385del	NP_001336611.1:n.558+374_558+385del
NM_001349683.2:c.345+374_345+385del	NP_001336612.1:n.345+374_345+385del
NM_001349685.2:c.315+374_315+385del	NP_001336614.1:n.315+374_315+385del
NM_001349686.2:c.333+374_333+385del	NP_001336615.1:n.333+374_333+385del
NM_001349687.2:c.318+389_318+400del	NP_001336616.1:n.318+389_318+400del
NM_001349688.2:c.330+389_330+400del	NP_001336617.1:n.330+389_330+400del
NM_001349689.2:c.348+374_348+385del	NP_001336618.1:n.348+374_348+385del
NM_014424.5:c.333+374_333+385del MANE Select	NP_055239.1:n.333+374_333+385del