Canonical Allele Identifier: CA1139657233

Gene: MBD5

Linked Data

• ClinVar Variation Id: 948874
• ClinVar RCV Id: RCV001220215
• dbSNP Id: rs1680665652

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.148468478_148468490del , CM000664.2:g.148468478_148468490del	GRCh38
NC_000002.11:g.149226047_149226059del , CM000664.1:g.149226047_149226059del	GRCh37
NC_000002.10:g.148942517_148942529del	NCBI36
NG_017003.1:g.452468_452480del
NG_017003.2:g.452468_452480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638043.2:c.535_547del	ENSP00000490728.2:p.Gly179TyrfsTer?
ENST00000642680.2:c.535_547del MANE Select	ENSP00000493871.2:p.Gly179TyrfsTer?
ENST00000404807.5:c.535_547del	ENSP00000384672.1:p.Gly179TyrfsTer?
ENST00000407073.5:c.535_547del	ENSP00000386049.1:p.Gly179TyrfsTer?
ENST00000627651.2:c.535_547del	ENSP00000486370.1:p.Gly179TyrfsTer?
ENST00000629878.2:c.535_547del	ENSP00000487089.1:p.Gly179TyrfsTer?
NM_018328.4:c.535_547del	NP_060798.2:p.Gly179TyrfsTer?
XM_005263711.2:c.535_547del	XP_005263768.1:p.Gly179TyrfsTer?
XM_011511470.1:c.535_547del	XP_011509772.1:p.Gly179TyrfsTer?
XM_011511471.1:c.535_547del	XP_011509773.1:p.Gly179TyrfsTer?
XM_011511472.1:c.535_547del	XP_011509774.1:p.Gly179TyrfsTer?
XM_011511473.1:c.535_547del	XP_011509775.1:p.Gly179TyrfsTer?
XM_011511474.1:c.535_547del	XP_011509776.1:p.Gly179TyrfsTer?
XM_011511475.1:c.535_547del	XP_011509777.1:p.Gly179TyrfsTer?
XM_011511476.1:c.535_547del	XP_011509778.1:p.Gly179TyrfsTer?
XR_922967.1:n.1764_1776del
XM_011511470.2:c.535_547del	XP_011509772.1:p.Gly179TyrfsTer?
XM_011511472.2:c.535_547del	XP_011509774.1:p.Gly179TyrfsTer?
XM_024452987.1:c.535_547del	XP_024308755.1:p.Gly179TyrfsTer?
XM_024452988.1:c.535_547del	XP_024308756.1:p.Gly179TyrfsTer?
XM_024452989.1:c.535_547del	XP_024308757.1:p.Gly179TyrfsTer?
XM_024452990.1:c.535_547del	XP_024308758.1:p.Gly179TyrfsTer?
XR_002959318.1:n.847_859del
XR_002959319.1:n.847_859del
NM_001378120.1:c.535_547del MANE Select	NP_001365049.1:p.Gly179TyrfsTer?
NM_018328.5:c.535_547del	NP_060798.2:p.Gly179TyrfsTer?