Canonical Allele Identifier: CA2580063853

Gene: MBD5

Linked Data

• ClinVar Variation Id: 1984805
• ClinVar RCV Id: RCV002800368
• gnomAD v4: 2-148502516-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.148502517del , CM000664.2:g.148502517del	GRCh38
NC_000002.11:g.149260086del , CM000664.1:g.149260086del	GRCh37
NC_000002.10:g.148976556del	NCBI36
NG_017003.1:g.486507del
NG_017003.2:g.486507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000628572.2:c.2966+8del
ENST00000637835.1:n.67+8del
ENST00000638043.2:c.4376+8del	ENSP00000490728.2:n.4376+8del
ENST00000642680.2:c.5036+8del MANE Select	ENSP00000493871.2:n.5036+8del
ENST00000404807.5:c.5036+8del	ENSP00000384672.1:n.5036+8del
ENST00000407073.5:c.4337+8del	ENSP00000386049.1:n.4337+8del
ENST00000416015.2:c.3046+8del
ENST00000496893.3:n.2118+8del
ENST00000628572.1:c.576+8del	ENSP00000486209.1:n.576+8del
ENST00000629878.2:c.3243+8del	ENSP00000487089.1:n.3243+8del
ENST00000630352.1:c.162-10353del
NM_018328.4:c.4337+8del	NP_060798.2:n.4337+8del
XM_005263711.2:c.5036+8del	XP_005263768.1:n.5036+8del
XM_011511470.1:c.5075+8del	XP_011509772.1:n.5075+8del
XM_011511471.1:c.5075+8del	XP_011509773.1:n.5075+8del
XM_011511472.1:c.5075+8del	XP_011509774.1:n.5075+8del
XM_011511473.1:c.5075+8del	XP_011509775.1:n.5075+8del
XM_011511474.1:c.5036+8del	XP_011509776.1:n.5036+8del
XM_011511475.1:c.4376+8del	XP_011509777.1:n.4376+8del
XM_011511476.1:c.4337+8del	XP_011509778.1:n.4337+8del
XR_922967.1:n.6358+8del
XM_011511470.2:c.5075+8del	XP_011509772.1:n.5075+8del
XM_011511472.2:c.5075+8del	XP_011509774.1:n.5075+8del
XM_024452987.1:c.5036+8del	XP_024308755.1:n.5036+8del
XM_024452988.1:c.5075+8del	XP_024308756.1:n.5075+8del
XM_024452989.1:c.5036+8del	XP_024308757.1:n.5036+8del
XM_024452990.1:c.4376+8del	XP_024308758.1:n.4376+8del
XR_002959318.1:n.5441+8del
XR_002959319.1:n.4842+8del
NM_001378120.1:c.5036+8del MANE Select	NP_001365049.1:n.5036+8del
NM_018328.5:c.4337+8del	NP_060798.2:n.4337+8del