Canonical Allele Identifier: CA890084533

Gene: HSPB7

Linked Data

• dbSNP Id: rs1353929883
• gnomAD v3: 1-16016689-CCCGCATCCGCCCCCCTATAGCTACCAGAGGAG-C
• gnomAD v4: 1-16016689-CCCGCATCCGCCCCCCTATAGCTACCAGAGGAG-C
• MyVariant Identifiers: chr1:g.16343185_16343216del (hg19) ; chr1:g.16016690_16016721del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16016691_16016722del , CM000663.2:g.16016691_16016722del	GRCh38
NC_000001.10:g.16343186_16343217del , CM000663.1:g.16343186_16343217del	GRCh37
NC_000001.9:g.16215773_16215804del	NCBI36
NG_053133.1:g.7076_7107del

Transcript Alleles

HGVS	Amino-acid change
ENST00000311890.14:c.333+353_333+384del MANE Select	ENSP00000310111.9:n.333+353_333+384del
ENST00000311890.13:c.333+353_333+384del	ENSP00000310111.9:n.333+353_333+384del
ENST00000375718.4:c.558+353_558+384del	ENSP00000364870.4:n.558+353_558+384del
ENST00000406363.2:c.345+353_345+384del	ENSP00000385472.2:n.345+353_345+384del
ENST00000411503.5:c.318+368_318+399del	ENSP00000391578.1:n.318+368_318+399del
ENST00000442459.2:n.970+353_970+384del
ENST00000463576.5:c.195+368_195+399del	ENSP00000417966.1:n.195+368_195+399del
ENST00000487046.1:c.348+353_348+384del	ENSP00000419477.1:n.348+353_348+384del
NM_014424.4:c.333+353_333+384del	NP_055239.1:n.333+353_333+384del
XM_011541249.1:c.612+353_612+384del	XP_011539551.1:n.612+353_612+384del
XM_011541250.1:c.609+353_609+384del	XP_011539552.1:n.609+353_609+384del
NM_001349682.1:c.558+353_558+384del	NP_001336611.1:n.558+353_558+384del
NM_001349683.1:c.345+353_345+384del	NP_001336612.1:n.345+353_345+384del
NM_001349685.1:c.315+353_315+384del	NP_001336614.1:n.315+353_315+384del
NM_001349686.1:c.333+353_333+384del	NP_001336615.1:n.333+353_333+384del
NM_001349687.1:c.318+368_318+399del	NP_001336616.1:n.318+368_318+399del
NM_001349688.1:c.330+368_330+399del	NP_001336617.1:n.330+368_330+399del
NM_001349689.1:c.348+353_348+384del	NP_001336618.1:n.348+353_348+384del
NM_001349682.2:c.558+353_558+384del	NP_001336611.1:n.558+353_558+384del
NM_001349683.2:c.345+353_345+384del	NP_001336612.1:n.345+353_345+384del
NM_001349685.2:c.315+353_315+384del	NP_001336614.1:n.315+353_315+384del
NM_001349686.2:c.333+353_333+384del	NP_001336615.1:n.333+353_333+384del
NM_001349687.2:c.318+368_318+399del	NP_001336616.1:n.318+368_318+399del
NM_001349688.2:c.330+368_330+399del	NP_001336617.1:n.330+368_330+399del
NM_001349689.2:c.348+353_348+384del	NP_001336618.1:n.348+353_348+384del
NM_014424.5:c.333+353_333+384del MANE Select	NP_055239.1:n.333+353_333+384del