Canonical Allele Identifier: CA2576443084

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2697913_2697914insT , CM000680.2:g.2697913_2697914insT	GRCh38
NC_000018.9:g.2697911_2697912insT , CM000680.1:g.2697911_2697912insT	GRCh37
NC_000018.8:g.2687911_2687912insT	NCBI36
NG_031972.1:g.47026_47027insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1371_1372insT
ENST00000688342.1:c.1214_1215insT	ENSP00000508422.1:p.Thr406HisfsTer4
ENST00000693213.1:n.492_493insT
ENST00000320876.11:c.1214_1215insT MANE Select	ENSP00000326603.7:p.Thr406HisfsTer4
ENST00000320876.10:c.1214_1215insT	ENSP00000326603.6:p.Thr406HisfsTer4
NM_015295.2:c.1214_1215insT	NP_056110.2:p.Thr406HisfsTer4
XM_011525642.1:c.1214_1215insT	XP_011523944.1:p.Thr406HisfsTer4
XM_011525643.1:c.1214_1215insT	XP_011523945.1:p.Thr406HisfsTer4
XM_011525644.1:c.830_831insT	XP_011523946.1:p.Thr278HisfsTer4
XM_011525645.1:c.650_651insT	XP_011523947.1:p.Thr218HisfsTer4
XM_011525646.1:c.1214_1215insT	XP_011523948.1:p.Thr406HisfsTer4
XM_011525647.1:c.1214_1215insT	XP_011523949.1:p.Thr406HisfsTer4
XR_430039.1:n.1403_1404insT
XR_935054.1:n.1403_1404insT
XR_935055.1:n.1403_1404insT
XM_011525643.2:c.1214_1215insT	XP_011523945.1:p.Thr406HisfsTer4
XM_017025684.1:c.650_651insT	XP_016881173.1:p.Thr218HisfsTer4
XR_001753172.1:n.1403_1404insT
XR_001753173.1:n.1403_1404insT
XR_001753174.1:n.1403_1404insT
XR_001753175.1:n.1403_1404insT
XR_001753176.1:n.1403_1404insT
XR_001753177.1:n.1403_1404insT
XR_001753178.1:n.1403_1404insT
XR_001753179.1:n.1403_1404insT
XR_935055.2:n.1403_1404insT
NM_015295.3:c.1214_1215insT MANE Select	NP_056110.2:p.Thr406HisfsTer4