Canonical Allele Identifier: CA2691675857

Gene: HSPA5

Linked Data

• gnomAD v4: 9-125238695-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.125238697_125238698del , CM000671.2:g.125238697_125238698del	GRCh38
NC_000009.11:g.128000976_128000977del , CM000671.1:g.128000976_128000977del	GRCh37
NC_000009.10:g.127040797_127040798del	NCBI36
NG_027761.1:g.7691_7692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324460.7:c.1127_1128del MANE Select	ENSP00000324173.6:p.Lys376ArgfsTer16
ENST00000679355.1:n.1482_1483del
ENST00000679475.1:n.1711_1712del
ENST00000680032.1:c.1127_1128del	ENSP00000506285.1:p.Lys376ArgfsTer16
ENST00000680234.1:n.1383_1384del
ENST00000680257.1:n.1383_1384del
ENST00000680272.1:c.1013_1014del	ENSP00000506097.1:p.Lys338ArgfsTer16
ENST00000680494.1:n.2551_2552del
ENST00000680640.1:n.2078_2079del
ENST00000681045.1:n.2007_2008del
ENST00000681424.1:n.1482_1483del
ENST00000681540.1:n.1383_1384del
ENST00000681544.1:n.1458_1459del
ENST00000681675.1:n.2007_2008del
ENST00000681774.1:n.2349_2350del
ENST00000324460.6:c.1127_1128del	ENSP00000324173.6:p.Lys376ArgfsTer16
NM_005347.4:c.1127_1128del	NP_005338.1:p.Lys376ArgfsTer16
NM_005347.5:c.1127_1128del MANE Select	NP_005338.1:p.Lys376ArgfsTer16