Canonical Allele Identifier: CA10605209
Gene: SMCHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2732454_2732455del , CM000680.2:g.2732454_2732455del GRCh38
NC_000018.9:g.2732452_2732453del , CM000680.1:g.2732452_2732453del GRCh37
NC_000018.8:g.2722452_2722453del NCBI36
NG_031972.1:g.81567_81568del

Transcript Alleles

HGVS Amino-acid Change
ENST00000583441.2:n.924_925del
ENST00000686763.1:c.43_44del ENSP00000510263.1:p.Glu15AsnfsTer12
ENST00000688342.1:c.3238_3239del ENSP00000508422.1:p.Glu1080AsnfsTer12
ENST00000690757.1:n.695_696del
ENST00000693213.1:n.2516_2517del
ENST00000320876.11:c.3238_3239del MANE Select ENSP00000326603.7:p.Glu1080AsnfsTer12
ENST00000320876.10:c.3238_3239del ENSP00000326603.6:p.Glu1080AsnfsTer12
ENST00000577880.5:c.1651_1652del ENSP00000463049.1:p.Glu551AsnfsTer12
ENST00000581631.1:n.508_509del
ENST00000584897.5:c.1058_1059del
NM_015295.2:c.3238_3239del NP_056110.2:p.Glu1080AsnfsTer12
XM_011525642.1:c.3238_3239del XP_011523944.1:p.Glu1080AsnfsTer12
XM_011525643.1:c.3238_3239del XP_011523945.1:p.Glu1080AsnfsTer12
XM_011525644.1:c.2854_2855del XP_011523946.1:p.Glu952AsnfsTer12
XM_011525645.1:c.2674_2675del XP_011523947.1:p.Glu892AsnfsTer12
XM_011525646.1:c.3238_3239del XP_011523948.1:p.Glu1080AsnfsTer12
XM_011525647.1:c.3238_3239del XP_011523949.1:p.Glu1080AsnfsTer12
XR_430039.1:n.3427_3428del
XR_935054.1:n.3427_3428del
XR_935055.1:n.3427_3428del
XM_011525643.2:c.3238_3239del XP_011523945.1:p.Glu1080AsnfsTer12
XM_017025684.1:c.2674_2675del XP_016881173.1:p.Glu892AsnfsTer12
XR_001753172.1:n.3427_3428del
XR_001753173.1:n.3427_3428del
XR_001753174.1:n.3427_3428del
XR_001753175.1:n.3427_3428del
XR_001753176.1:n.3427_3428del
XR_001753177.1:n.3427_3428del
XR_001753178.1:n.3427_3428del
XR_001753179.1:n.3427_3428del
XR_935055.2:n.3427_3428del
NM_015295.3:c.3238_3239del MANE Select NP_056110.2:p.Glu1080AsnfsTer12