Canonical Allele Identifier: CA645599897

Gene: SMCHD1

Linked Data

• COSMIC: COSM5801392 ; COSM5801393

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2698005_2698022del , CM000680.2:g.2698005_2698022del	GRCh38
NC_000018.9:g.2698003_2698020del , CM000680.1:g.2698003_2698020del	GRCh37
NC_000018.8:g.2688003_2688020del	NCBI36
NG_031972.1:g.47118_47135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1463_1480del
ENST00000688342.1:c.1306_1323del	ENSP00000508422.1:p.Arg436_Asp441del
ENST00000693213.1:n.584_601del
ENST00000320876.11:c.1306_1323del MANE Select	ENSP00000326603.7:p.Arg436_Asp441del
ENST00000320876.10:c.1306_1323del	ENSP00000326603.6:p.Arg436_Asp441del
NM_015295.2:c.1306_1323del	NP_056110.2:p.Arg436_Asp441del
XM_011525642.1:c.1306_1323del	XP_011523944.1:p.Arg436_Asp441del
XM_011525643.1:c.1306_1323del	XP_011523945.1:p.Arg436_Asp441del
XM_011525644.1:c.922_939del	XP_011523946.1:p.Arg308_Asp313del
XM_011525645.1:c.742_759del	XP_011523947.1:p.Arg248_Asp253del
XM_011525646.1:c.1306_1323del	XP_011523948.1:p.Arg436_Asp441del
XM_011525647.1:c.1306_1323del	XP_011523949.1:p.Arg436_Asp441del
XR_430039.1:n.1495_1512del
XR_935054.1:n.1495_1512del
XR_935055.1:n.1495_1512del
XM_011525643.2:c.1306_1323del	XP_011523945.1:p.Arg436_Asp441del
XM_017025684.1:c.742_759del	XP_016881173.1:p.Arg248_Asp253del
XR_001753172.1:n.1495_1512del
XR_001753173.1:n.1495_1512del
XR_001753174.1:n.1495_1512del
XR_001753175.1:n.1495_1512del
XR_001753176.1:n.1495_1512del
XR_001753177.1:n.1495_1512del
XR_001753178.1:n.1495_1512del
XR_001753179.1:n.1495_1512del
XR_935055.2:n.1495_1512del
NM_015295.3:c.1306_1323del MANE Select	NP_056110.2:p.Arg436_Asp441del