Canonical Allele Identifier: CA2280681279

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2697901_2697904delinsCGTT , CM000680.2:g.2697901_2697904delinsCGTT	GRCh38
NC_000018.9:g.2697899_2697902delinsCGTT , CM000680.1:g.2697899_2697902delinsCGTT	GRCh37
NC_000018.8:g.2687899_2687902delinsCGTT	NCBI36
NG_031972.1:g.47014_47017delinsCGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000684915.1:n.1359_1362delinsCGTT
ENST00000688342.1:c.1202_1205delinsCGTT	ENSP00000508422.1:p.Thr401=
ENST00000693213.1:n.480_483delinsCGTT
ENST00000320876.11:c.1202_1205delinsCGTT MANE Select	ENSP00000326603.7:p.Thr401=
ENST00000320876.10:c.1202_1205delinsCGTT	ENSP00000326603.6:p.Thr401=
NM_015295.2:c.1202_1205delinsCGTT	NP_056110.2:p.Thr401=
XM_011525642.1:c.1202_1205delinsCGTT	XP_011523944.1:p.Thr401=
XM_011525643.1:c.1202_1205delinsCGTT	XP_011523945.1:p.Thr401=
XM_011525644.1:c.818_821delinsCGTT	XP_011523946.1:p.Thr273=
XM_011525645.1:c.638_641delinsCGTT	XP_011523947.1:p.Thr213=
XM_011525646.1:c.1202_1205delinsCGTT	XP_011523948.1:p.Thr401=
XM_011525647.1:c.1202_1205delinsCGTT	XP_011523949.1:p.Thr401=
XR_430039.1:n.1391_1394delinsCGTT
XR_935054.1:n.1391_1394delinsCGTT
XR_935055.1:n.1391_1394delinsCGTT
XM_011525643.2:c.1202_1205delinsCGTT	XP_011523945.1:p.Thr401=
XM_017025684.1:c.638_641delinsCGTT	XP_016881173.1:p.Thr213=
XR_001753172.1:n.1391_1394delinsCGTT
XR_001753173.1:n.1391_1394delinsCGTT
XR_001753174.1:n.1391_1394delinsCGTT
XR_001753175.1:n.1391_1394delinsCGTT
XR_001753176.1:n.1391_1394delinsCGTT
XR_001753177.1:n.1391_1394delinsCGTT
XR_001753178.1:n.1391_1394delinsCGTT
XR_001753179.1:n.1391_1394delinsCGTT
XR_935055.2:n.1391_1394delinsCGTT
NM_015295.3:c.1202_1205delinsCGTT MANE Select	NP_056110.2:p.Thr401=