Canonical Allele Identifier: CA10606540
Gene: SMCHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2770021dup , CM000680.2:g.2770021dup GRCh38
NC_000018.9:g.2770019dup , CM000680.1:g.2770019dup GRCh37
NC_000018.8:g.2760019dup NCBI36
NG_031972.1:g.119134dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000583344.2:n.784dup
ENST00000685656.1:n.1367dup
ENST00000686763.1:c.*438dup ENSP00000510263.1:n.*438dup
ENST00000686864.1:c.1641dup
ENST00000688342.1:c.4747dup ENSP00000508422.1:p.Thr1583AsnfsTer15
ENST00000688708.1:n.3608dup
ENST00000688964.1:n.1579dup
ENST00000689034.1:n.2826dup
ENST00000693213.1:n.4077dup
ENST00000693522.1:n.1420dup
ENST00000320876.11:c.4879dup MANE Select ENSP00000326603.7:p.Thr1627AsnfsTer15
ENST00000645355.1:c.924dup
ENST00000320876.10:c.4879dup ENSP00000326603.6:p.Thr1627AsnfsTer15
ENST00000577880.5:c.3292dup ENSP00000463049.1:p.Thr1098AsnfsTer15
ENST00000584897.5:c.2699dup
NM_015295.2:c.4879dup NP_056110.2:p.Thr1627AsnfsTer15
XM_011525642.1:c.4879dup XP_011523944.1:p.Thr1627AsnfsTer15
XM_011525643.1:c.4879dup XP_011523945.1:p.Thr1627AsnfsTer15
XM_011525644.1:c.4495dup XP_011523946.1:p.Thr1499AsnfsTer15
XM_011525645.1:c.4315dup XP_011523947.1:p.Thr1439AsnfsTer15
XR_430039.1:n.5068dup
XR_935054.1:n.5068dup
XR_935055.1:n.5068dup
XM_011525643.2:c.4879dup XP_011523945.1:p.Thr1627AsnfsTer15
XM_017025684.1:c.4315dup XP_016881173.1:p.Thr1439AsnfsTer15
XR_001753172.1:n.5068dup
XR_001753173.1:n.5068dup
XR_001753174.1:n.5068dup
XR_001753175.1:n.5068dup
XR_001753176.1:n.5068dup
XR_001753177.1:n.4980dup
XR_001753178.1:n.4988dup
XR_001753179.1:n.4900dup
XR_935055.2:n.5068dup
NM_015295.3:c.4879dup MANE Select NP_056110.2:p.Thr1627AsnfsTer15