Canonical Allele Identifier: CA2752612984

Gene: MBD5

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.148470467_148470474del , CM000664.2:g.148470467_148470474del	GRCh38
NC_000002.11:g.149228036_149228043del , CM000664.1:g.149228036_149228043del	GRCh37
NC_000002.10:g.148944506_148944513del	NCBI36
NG_017003.1:g.454457_454464del
NG_017003.2:g.454457_454464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000628572.2:c.954+6_954+13del
ENST00000638043.2:c.2518+6_2518+13del	ENSP00000490728.2:n.2518+6_2518+13del
ENST00000642680.2:c.2518+6_2518+13del MANE Select	ENSP00000493871.2:n.2518+6_2518+13del
ENST00000404807.5:c.2518+6_2518+13del	ENSP00000384672.1:n.2518+6_2518+13del
ENST00000407073.5:c.2518+6_2518+13del	ENSP00000386049.1:n.2518+6_2518+13del
ENST00000416015.2:c.1737+6_1737+13del
ENST00000627651.2:c.2524_2531del	ENSP00000486370.1:p.Val842ArgfsTer27
ENST00000629878.2:c.2518+6_2518+13del	ENSP00000487089.1:n.2518+6_2518+13del
NM_018328.4:c.2518+6_2518+13del	NP_060798.2:n.2518+6_2518+13del
XM_005263711.2:c.2518+6_2518+13del	XP_005263768.1:n.2518+6_2518+13del
XM_011511470.1:c.2518+6_2518+13del	XP_011509772.1:n.2518+6_2518+13del
XM_011511471.1:c.2518+6_2518+13del	XP_011509773.1:n.2518+6_2518+13del
XM_011511472.1:c.2518+6_2518+13del	XP_011509774.1:n.2518+6_2518+13del
XM_011511473.1:c.2518+6_2518+13del	XP_011509775.1:n.2518+6_2518+13del
XM_011511474.1:c.2518+6_2518+13del	XP_011509776.1:n.2518+6_2518+13del
XM_011511475.1:c.2518+6_2518+13del	XP_011509777.1:n.2518+6_2518+13del
XM_011511476.1:c.2518+6_2518+13del	XP_011509778.1:n.2518+6_2518+13del
XR_922967.1:n.3747+6_3747+13del
XM_011511470.2:c.2518+6_2518+13del	XP_011509772.1:n.2518+6_2518+13del
XM_011511472.2:c.2518+6_2518+13del	XP_011509774.1:n.2518+6_2518+13del
XM_024452987.1:c.2518+6_2518+13del	XP_024308755.1:n.2518+6_2518+13del
XM_024452988.1:c.2518+6_2518+13del	XP_024308756.1:n.2518+6_2518+13del
XM_024452989.1:c.2518+6_2518+13del	XP_024308757.1:n.2518+6_2518+13del
XM_024452990.1:c.2518+6_2518+13del	XP_024308758.1:n.2518+6_2518+13del
XR_002959318.1:n.2830+6_2830+13del
XR_002959319.1:n.2830+6_2830+13del
NM_001378120.1:c.2518+6_2518+13del MANE Select	NP_001365049.1:n.2518+6_2518+13del
NM_018328.5:c.2518+6_2518+13del	NP_060798.2:n.2518+6_2518+13del