Canonical Allele Identifier: CA536614588

Gene: MBD5

Linked Data

• dbSNP Id: rs1225140753
• gnomAD v2: 2-149216460-TGTG-T
• gnomAD v4: 2-148458891-TGTG-T
• MyVariant Identifiers: chr2:g.149216461_149216463del (hg19) ; chr2:g.148458892_148458894del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.148458894_148458896del , CM000664.2:g.148458894_148458896del	GRCh38
NC_000002.11:g.149216463_149216465del , CM000664.1:g.149216463_149216465del	GRCh37
NC_000002.10:g.148932933_148932935del	NCBI36
NG_017003.1:g.442884_442886del
NG_017003.2:g.442884_442886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000637159.1:c.113+23_113+25del	ENSP00000490140.1:n.113+23_113+25del
ENST00000638043.2:c.113+23_113+25del	ENSP00000490728.2:n.113+23_113+25del
ENST00000642680.2:c.113+23_113+25del MANE Select	ENSP00000493871.2:n.113+23_113+25del
ENST00000404807.5:c.113+23_113+25del	ENSP00000384672.1:n.113+23_113+25del
ENST00000407073.5:c.113+23_113+25del	ENSP00000386049.1:n.113+23_113+25del
ENST00000627651.2:c.113+23_113+25del	ENSP00000486370.1:n.113+23_113+25del
ENST00000629878.2:c.113+23_113+25del	ENSP00000487089.1:n.113+23_113+25del
NM_018328.4:c.113+23_113+25del	NP_060798.2:n.113+23_113+25del
XM_005263711.2:c.113+23_113+25del	XP_005263768.1:n.113+23_113+25del
XM_011511470.1:c.113+23_113+25del	XP_011509772.1:n.113+23_113+25del
XM_011511471.1:c.113+23_113+25del	XP_011509773.1:n.113+23_113+25del
XM_011511472.1:c.113+23_113+25del	XP_011509774.1:n.113+23_113+25del
XM_011511473.1:c.113+23_113+25del	XP_011509775.1:n.113+23_113+25del
XM_011511474.1:c.113+23_113+25del	XP_011509776.1:n.113+23_113+25del
XM_011511475.1:c.113+23_113+25del	XP_011509777.1:n.113+23_113+25del
XM_011511476.1:c.113+23_113+25del	XP_011509778.1:n.113+23_113+25del
XR_922967.1:n.1342+23_1342+25del
XM_011511470.2:c.113+23_113+25del	XP_011509772.1:n.113+23_113+25del
XM_011511472.2:c.113+23_113+25del	XP_011509774.1:n.113+23_113+25del
XM_024452987.1:c.113+23_113+25del	XP_024308755.1:n.113+23_113+25del
XM_024452988.1:c.113+23_113+25del	XP_024308756.1:n.113+23_113+25del
XM_024452989.1:c.113+23_113+25del	XP_024308757.1:n.113+23_113+25del
XM_024452990.1:c.113+23_113+25del	XP_024308758.1:n.113+23_113+25del
XR_002959318.1:n.425+23_425+25del
XR_002959319.1:n.425+23_425+25del
NM_001378120.1:c.113+23_113+25del MANE Select	NP_001365049.1:n.113+23_113+25del
NM_018328.5:c.113+23_113+25del	NP_060798.2:n.113+23_113+25del