Canonical Allele Identifier: CA2580079210

Gene: MPDZ

Linked Data

• ClinVar Variation Id: 2135721
• ClinVar RCV Id: RCV003048762

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.13109016del , CM000671.2:g.13109016del	GRCh38
NC_000009.11:g.13109015del , CM000671.1:g.13109015del	GRCh37
NC_000009.10:g.13099015del	NCBI36
NG_042810.1:g.175550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319217.12:c.5987del MANE Select	ENSP00000320006.7:p.Gly1996AlafsTer2
ENST00000447879.6:c.5888del	ENSP00000415208.1:p.Gly1963AlafsTer2
ENST00000319198.10:n.2487del
ENST00000319217.11:c.5987del	ENSP00000320006.7:p.Gly1996AlafsTer2
ENST00000381017.6:n.1547del
ENST00000381022.6:c.5888del	ENSP00000370410.3:p.Gly1963AlafsTer2
ENST00000438511.5:c.1610del	ENSP00000415964.1:p.Gly537AlafsTer2
ENST00000447879.5:c.5888del	ENSP00000415208.1:p.Gly1963AlafsTer2
ENST00000536827.5:c.5801del	ENSP00000444151.1:p.Gly1934AlafsTer2
ENST00000538841.5:c.2564del	ENSP00000444717.1:p.Gly855AlafsTer2
ENST00000539508.5:n.5874del
ENST00000541718.5:c.5900del	ENSP00000439807.1:p.Gly1967AlafsTer2
ENST00000542806.5:c.2125del
ENST00000545857.5:c.2795del	ENSP00000444230.1:p.Gly932AlafsTer2
ENST00000546205.5:c.6029del	ENSP00000446358.1:p.Gly2010AlafsTer2
NM_001261406.1:c.5888del	NP_001248335.1:p.Gly1963AlafsTer2
NM_001261407.1:c.5801del	NP_001248336.1:p.Gly1934AlafsTer2
NM_003829.4:c.5900del	NP_003820.2:p.Gly1967AlafsTer2
XM_005251622.3:c.5987del	XP_005251679.1:p.Gly1996AlafsTer2
XM_005251623.3:c.5777del	XP_005251680.1:p.Gly1926AlafsTer2
XM_006716885.2:c.5987del	XP_006716948.1:p.Gly1996AlafsTer2
XM_006716886.2:c.5987del	XP_006716949.1:p.Gly1996AlafsTer2
XM_006716887.2:c.5987del	XP_006716950.1:p.Gly1996AlafsTer2
XM_006716888.2:c.5900del	XP_006716951.1:p.Gly1967AlafsTer2
XM_006716889.2:c.5888del	XP_006716952.1:p.Gly1963AlafsTer2
XM_006716890.2:c.5870del	XP_006716953.1:p.Gly1957AlafsTer2
XM_006716891.2:c.5801del	XP_006716954.1:p.Gly1934AlafsTer2
NM_001330637.1:c.5987del	NP_001317566.1:p.Gly1996AlafsTer2
XM_005251623.4:c.5777del	XP_005251680.1:p.Gly1926AlafsTer2
XM_006716885.3:c.5987del	XP_006716948.1:p.Gly1996AlafsTer2
XM_006716886.3:c.5987del	XP_006716949.1:p.Gly1996AlafsTer2
XM_006716887.4:c.5987del	XP_006716950.1:p.Gly1996AlafsTer2
XM_006716888.3:c.5900del	XP_006716951.1:p.Gly1967AlafsTer2
XM_006716889.3:c.5888del	XP_006716952.1:p.Gly1963AlafsTer2
XM_006716891.3:c.5801del	XP_006716954.1:p.Gly1934AlafsTer2
XM_017015252.1:c.5903del	XP_016870741.1:p.Gly1968AlafsTer2
XM_017015253.1:c.5801del	XP_016870742.1:p.Gly1934AlafsTer2
XM_017015254.1:c.5777del	XP_016870743.1:p.Gly1926AlafsTer2
XM_017015255.1:c.5777del	XP_016870744.1:p.Gly1926AlafsTer2
XM_017015256.1:c.5690del	XP_016870745.1:p.Gly1897AlafsTer2
XM_017015257.1:c.5690del	XP_016870746.1:p.Gly1897AlafsTer2
XM_024447708.1:c.5987del	XP_024303476.1:p.Gly1996AlafsTer2
XR_002956817.1:n.9017del
NM_001261406.2:c.5888del	NP_001248335.1:p.Gly1963AlafsTer2
NM_001261407.2:c.5801del	NP_001248336.1:p.Gly1934AlafsTer2
NM_001330637.2:c.5987del	NP_001317566.1:p.Gly1996AlafsTer2
NM_001375413.1:c.6086del	NP_001362342.1:p.Gly2029AlafsTer2
NM_001375416.1:c.5888del	NP_001362345.1:p.Gly1963AlafsTer2
NM_001375417.1:c.5888del	NP_001362346.1:p.Gly1963AlafsTer2
NM_001375418.1:c.5888del	NP_001362347.1:p.Gly1963AlafsTer2
NM_001375419.1:c.5801del	NP_001362348.1:p.Gly1934AlafsTer2
NM_001375420.1:c.5777del	NP_001362349.1:p.Gly1926AlafsTer2
NM_001375421.1:c.5777del	NP_001362350.1:p.Gly1926AlafsTer2
NM_001375422.1:c.5777del	NP_001362351.1:p.Gly1926AlafsTer2
NM_001375423.1:c.5777del	NP_001362352.1:p.Gly1926AlafsTer2
NM_001375424.1:c.5777del	NP_001362353.1:p.Gly1926AlafsTer2
NM_001375425.1:c.5690del	NP_001362354.1:p.Gly1897AlafsTer2
NM_001375426.1:c.5690del	NP_001362355.1:p.Gly1897AlafsTer2
NM_001375427.1:c.5579del	NP_001362356.1:p.Gly1860AlafsTer2
NM_003829.5:c.5900del	NP_003820.2:p.Gly1967AlafsTer2
NM_001378778.1:c.5987del MANE Select	NP_001365707.1:p.Gly1996AlafsTer2