Canonical Allele Identifier: CA2752613641
Gene: MBD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.148458739_148458742del , CM000664.2:g.148458739_148458742del GRCh38
NC_000002.11:g.149216308_149216311del , CM000664.1:g.149216308_149216311del GRCh37
NC_000002.10:g.148932778_148932781del NCBI36
NG_017003.1:g.442729_442732del
NG_017003.2:g.442729_442732del

Transcript Alleles

HGVS Amino-acid Change
ENST00000637159.1:c.-20_-17del ENSP00000490140.1:n.-20_-17del
ENST00000638043.2:c.-20_-17del ENSP00000490728.2:n.-20_-17del
ENST00000642680.2:c.-20_-17del MANE Select ENSP00000493871.2:n.-20_-17del
ENST00000404807.5:c.-20_-17del ENSP00000384672.1:n.-20_-17del
ENST00000407073.5:c.-20_-17del ENSP00000386049.1:n.-20_-17del
ENST00000627651.2:c.-20_-17del ENSP00000486370.1:n.-20_-17del
ENST00000629878.2:c.-20_-17del ENSP00000487089.1:n.-20_-17del
NM_018328.4:c.-20_-17del NP_060798.2:n.-20_-17del
XM_005263711.2:c.-20_-17del XP_005263768.1:n.-20_-17del
XM_011511470.1:c.-20_-17del XP_011509772.1:n.-20_-17del
XM_011511471.1:c.-20_-17del XP_011509773.1:n.-20_-17del
XM_011511472.1:c.-20_-17del XP_011509774.1:n.-20_-17del
XM_011511473.1:c.-20_-17del XP_011509775.1:n.-20_-17del
XM_011511474.1:c.-20_-17del XP_011509776.1:n.-20_-17del
XM_011511475.1:c.-20_-17del XP_011509777.1:n.-20_-17del
XM_011511476.1:c.-20_-17del XP_011509778.1:n.-20_-17del
XR_922967.1:n.1210_1213del
XM_011511470.2:c.-20_-17del XP_011509772.1:n.-20_-17del
XM_011511472.2:c.-20_-17del XP_011509774.1:n.-20_-17del
XM_024452987.1:c.-20_-17del XP_024308755.1:n.-20_-17del
XM_024452988.1:c.-20_-17del XP_024308756.1:n.-20_-17del
XM_024452989.1:c.-20_-17del XP_024308757.1:n.-20_-17del
XM_024452990.1:c.-20_-17del XP_024308758.1:n.-20_-17del
XR_002959318.1:n.293_296del
XR_002959319.1:n.293_296del
NM_001378120.1:c.-20_-17del MANE Select NP_001365049.1:n.-20_-17del
NM_018328.5:c.-20_-17del NP_060798.2:n.-20_-17del