Canonical Allele Identifier: CA358723

Gene: HSPA9

Linked Data

• ClinVar Variation Id: 224330
• ClinVar RCV Id: RCV000209995 ; RCV001781629 ; RCV003387515
• dbSNP Id: rs772570880
• ExAC: 5:137902403 CCT / C
• gnomAD v2: 5-137902403-CCT-C
• gnomAD v3: 5-138566714-CCT-C
• gnomAD v4: 5-138566714-CCT-C
• MyVariant Identifiers: chr5:g.137902404_137902405del (hg19) ; chr5:g.138566715_138566716del (hg38)
• PubMed: PMID:26598328 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138566715_138566716del , CM000667.2:g.138566715_138566716del	GRCh38
NC_000005.9:g.137902404_137902405del , CM000667.1:g.137902404_137902405del	GRCh37
NC_000005.8:g.137930303_137930304del	NCBI36
NG_029469.1:g.13914_13915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297185.9:c.882_883del MANE Select	ENSP00000297185.3:p.Val296Ter
ENST00000501917.7:n.13_14del
ENST00000504902.6:c.882_883del	ENSP00000421311.2:p.Val296Ter
ENST00000507115.6:c.882_883del	ENSP00000423759.2:p.Val296Ter
ENST00000508003.2:n.983_984del
ENST00000524109.2:n.1239_1240del
ENST00000649578.2:c.*265_*266del	ENSP00000497906.1:n.*265_*266del
ENST00000649692.2:n.985_986del
ENST00000677064.1:c.882_883del	ENSP00000503373.1:p.Val296Ter
ENST00000677066.1:c.675_676del	ENSP00000502902.1:p.Val227Ter
ENST00000677425.1:c.879+285_879+286del	ENSP00000503066.1:n.879+285_879+286del
ENST00000677527.1:c.*706_*707del	ENSP00000503650.1:n.*706_*707del
ENST00000677553.1:c.877_878del	ENSP00000502970.1:n.877_878del
ENST00000677693.1:c.*796_*797del	ENSP00000503383.1:n.*796_*797del
ENST00000677988.1:c.*796_*797del	ENSP00000502960.1:n.*796_*797del
ENST00000678051.1:c.576_577del	ENSP00000503219.1:p.Val194Ter
ENST00000678300.1:c.675_676del	ENSP00000503259.1:p.Val227Ter
ENST00000678384.1:c.675_676del	ENSP00000503992.1:p.Val227Ter
ENST00000678551.1:n.985_986del
ENST00000678794.1:c.890_891del
ENST00000297185.7:c.882_883del	ENSP00000297185.3:p.Val296Ter
ENST00000501917.6:n.3_4del
ENST00000507097.5:n.1008_1009del
NM_004134.6:c.882_883del	NP_004125.3:p.Val296Ter
XR_948819.1:n.75-17113_75-17112del
NM_004134.7:c.882_883del MANE Select	NP_004125.3:p.Val296Ter