Canonical Allele Identifier: CA2695227177

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2697904_2697967del , CM000680.2:g.2697904_2697967del	GRCh38
NC_000018.9:g.2697902_2697965del , CM000680.1:g.2697902_2697965del	GRCh37
NC_000018.8:g.2687902_2687965del	NCBI36
NG_031972.1:g.47017_47080del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684915.1:n.1362_1425del
ENST00000688342.1:c.1205_1268del	ENSP00000508422.1:p.Leu402TrpfsTer27
ENST00000693213.1:n.483_546del
ENST00000320876.11:c.1205_1268del MANE Select	ENSP00000326603.7:p.Leu402TrpfsTer27
ENST00000320876.10:c.1205_1268del	ENSP00000326603.6:p.Leu402TrpfsTer27
NM_015295.2:c.1205_1268del	NP_056110.2:p.Leu402TrpfsTer27
XM_011525642.1:c.1205_1268del	XP_011523944.1:p.Leu402TrpfsTer27
XM_011525643.1:c.1205_1268del	XP_011523945.1:p.Leu402TrpfsTer27
XM_011525644.1:c.821_884del	XP_011523946.1:p.Leu274TrpfsTer27
XM_011525645.1:c.641_704del	XP_011523947.1:p.Leu214TrpfsTer27
XM_011525646.1:c.1205_1268del	XP_011523948.1:p.Leu402TrpfsTer27
XM_011525647.1:c.1205_1268del	XP_011523949.1:p.Leu402TrpfsTer27
XR_430039.1:n.1394_1457del
XR_935054.1:n.1394_1457del
XR_935055.1:n.1394_1457del
XM_011525643.2:c.1205_1268del	XP_011523945.1:p.Leu402TrpfsTer27
XM_017025684.1:c.641_704del	XP_016881173.1:p.Leu214TrpfsTer27
XR_001753172.1:n.1394_1457del
XR_001753173.1:n.1394_1457del
XR_001753174.1:n.1394_1457del
XR_001753175.1:n.1394_1457del
XR_001753176.1:n.1394_1457del
XR_001753177.1:n.1394_1457del
XR_001753178.1:n.1394_1457del
XR_001753179.1:n.1394_1457del
XR_935055.2:n.1394_1457del
NM_015295.3:c.1205_1268del MANE Select	NP_056110.2:p.Leu402TrpfsTer27