Canonical Allele Identifier: CA2579451904

Gene: HSPA5

Linked Data

• gnomAD v4: 9-125238764-ACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.125238769_125238771del , CM000671.2:g.125238769_125238771del	GRCh38
NC_000009.11:g.128001048_128001050del , CM000671.1:g.128001048_128001050del	GRCh37
NC_000009.10:g.127040869_127040871del	NCBI36
NG_027761.1:g.7621_7623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324460.7:c.1057_1059del MANE Select	ENSP00000324173.6:p.Lys353del
ENST00000679355.1:n.1412_1414del
ENST00000679475.1:n.1641_1643del
ENST00000680032.1:c.1057_1059del	ENSP00000506285.1:p.Lys353del
ENST00000680234.1:n.1313_1315del
ENST00000680257.1:n.1313_1315del
ENST00000680272.1:c.997-54_997-52del	ENSP00000506097.1:n.997-54_997-52del
ENST00000680494.1:n.2481_2483del
ENST00000680640.1:n.2008_2010del
ENST00000681045.1:n.1937_1939del
ENST00000681424.1:n.1412_1414del
ENST00000681540.1:n.1313_1315del
ENST00000681544.1:n.1388_1390del
ENST00000681675.1:n.1937_1939del
ENST00000681774.1:n.2279_2281del
ENST00000324460.6:c.1057_1059del	ENSP00000324173.6:p.Lys353del
NM_005347.4:c.1057_1059del	NP_005338.1:p.Lys353del
NM_005347.5:c.1057_1059del MANE Select	NP_005338.1:p.Lys353del