Canonical Allele Identifier: CA16042337
Gene: MBD5 HGNC NCBI

Linked Data

ClinVar Variation Id: 373716
ClinVar RCV Id: RCV000413134
dbSNP Id: rs1057518567

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.148469754del , CM000664.2:g.148469754del GRCh38
NC_000002.11:g.149227323del , CM000664.1:g.149227323del GRCh37
NC_000002.10:g.148943793del NCBI36
NG_017003.1:g.453744del
NG_017003.2:g.453744del

Transcript Alleles

HGVS Amino-acid change
ENST00000628572.2:c.247del
ENST00000638043.2:c.1811del ENSP00000490728.2:p.Asn604IlefsTer17
ENST00000642680.2:c.1811del MANE Select ENSP00000493871.2:p.Asn604IlefsTer17
ENST00000404807.5:c.1811del ENSP00000384672.1:p.Asn604IlefsTer17
ENST00000407073.5:c.1811del ENSP00000386049.1:p.Asn604IlefsTer17
ENST00000416015.2:c.1030del
ENST00000627651.2:c.1811del ENSP00000486370.1:p.Asn604IlefsTer17
ENST00000629878.2:c.1811del ENSP00000487089.1:p.Asn604IlefsTer17
NM_018328.4:c.1811del NP_060798.2:p.Asn604IlefsTer17
XM_005263711.2:c.1811del XP_005263768.1:p.Asn604IlefsTer17
XM_011511470.1:c.1811del XP_011509772.1:p.Asn604IlefsTer17
XM_011511471.1:c.1811del XP_011509773.1:p.Asn604IlefsTer17
XM_011511472.1:c.1811del XP_011509774.1:p.Asn604IlefsTer17
XM_011511473.1:c.1811del XP_011509775.1:p.Asn604IlefsTer17
XM_011511474.1:c.1811del XP_011509776.1:p.Asn604IlefsTer17
XM_011511475.1:c.1811del XP_011509777.1:p.Asn604IlefsTer17
XM_011511476.1:c.1811del XP_011509778.1:p.Asn604IlefsTer17
XR_922967.1:n.3040del
XM_011511470.2:c.1811del XP_011509772.1:p.Asn604IlefsTer17
XM_011511472.2:c.1811del XP_011509774.1:p.Asn604IlefsTer17
XM_024452987.1:c.1811del XP_024308755.1:p.Asn604IlefsTer17
XM_024452988.1:c.1811del XP_024308756.1:p.Asn604IlefsTer17
XM_024452989.1:c.1811del XP_024308757.1:p.Asn604IlefsTer17
XM_024452990.1:c.1811del XP_024308758.1:p.Asn604IlefsTer17
XR_002959318.1:n.2123del
XR_002959319.1:n.2123del
NM_001378120.1:c.1811del MANE Select NP_001365049.1:p.Asn604IlefsTer17
NM_018328.5:c.1811del NP_060798.2:p.Asn604IlefsTer17