Canonical Allele Identifier: CA645599887

Gene: SMCHD1

Linked Data

• COSMIC: COSM4517777 ; COSM4517778 ; COSM4517779

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2667025_2667026delinsTT , CM000680.2:g.2667025_2667026delinsTT	GRCh38
NC_000018.9:g.2667024_2667025delinsTT , CM000680.1:g.2667024_2667025delinsTT	GRCh37
NC_000018.8:g.2657024_2657025delinsTT	NCBI36
NG_031972.1:g.16139_16140delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.575_576delinsTT
ENST00000688342.1:c.418_419delinsTT	ENSP00000508422.1:p.Pro140Phe
ENST00000320876.11:c.418_419delinsTT MANE Select	ENSP00000326603.7:p.Pro140Phe
ENST00000320876.10:c.418_419delinsTT	ENSP00000326603.6:p.Pro140Phe
NM_015295.2:c.418_419delinsTT	NP_056110.2:p.Pro140Phe
XM_011525642.1:c.418_419delinsTT	XP_011523944.1:p.Pro140Phe
XM_011525643.1:c.418_419delinsTT	XP_011523945.1:p.Pro140Phe
XM_011525644.1:c.34_35delinsTT	XP_011523946.1:p.Pro12Phe
XM_011525645.1:c.-325_-324delinsTT	XP_011523947.1:n.-325_-324delinsTT
XM_011525646.1:c.418_419delinsTT	XP_011523948.1:p.Pro140Phe
XM_011525647.1:c.418_419delinsTT	XP_011523949.1:p.Pro140Phe
XR_430039.1:n.607_608delinsTT
XR_935054.1:n.607_608delinsTT
XR_935055.1:n.607_608delinsTT
XM_011525643.2:c.418_419delinsTT	XP_011523945.1:p.Pro140Phe
XM_017025684.1:c.-325_-324delinsTT	XP_016881173.1:n.-325_-324delinsTT
XR_001753172.1:n.607_608delinsTT
XR_001753173.1:n.607_608delinsTT
XR_001753174.1:n.607_608delinsTT
XR_001753175.1:n.607_608delinsTT
XR_001753176.1:n.607_608delinsTT
XR_001753177.1:n.607_608delinsTT
XR_001753178.1:n.607_608delinsTT
XR_001753179.1:n.607_608delinsTT
XR_935055.2:n.607_608delinsTT
NM_015295.3:c.418_419delinsTT MANE Select	NP_056110.2:p.Pro140Phe