Canonical Allele Identifier: CA2640808539

Gene: SMCHD1

Linked Data

• gnomAD v4: 18-2656187-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2656189del , CM000680.2:g.2656189del	GRCh38
NC_000018.9:g.2656188del , CM000680.1:g.2656188del	GRCh37
NC_000018.8:g.2646188del	NCBI36
NG_031972.1:g.5303del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.271del
ENST00000688342.1:c.114del	ENSP00000508422.1:p.Glu39SerfsTer?
ENST00000320876.11:c.114del MANE Select	ENSP00000326603.7:p.Glu39SerfsTer?
ENST00000320876.10:c.114del	ENSP00000326603.6:p.Glu39SerfsTer?
NM_015295.2:c.114del	NP_056110.2:p.Glu39SerfsTer?
XM_011525642.1:c.114del	XP_011523944.1:p.Glu39SerfsTer?
XM_011525643.1:c.114del	XP_011523945.1:p.Glu39SerfsTer?
XM_011525644.1:c.-195del	XP_011523946.1:n.-195del
XM_011525646.1:c.114del	XP_011523948.1:p.Glu39SerfsTer?
XM_011525647.1:c.114del	XP_011523949.1:p.Glu39SerfsTer?
XR_430039.1:n.303del
XR_935054.1:n.303del
XR_935055.1:n.303del
XM_011525643.2:c.114del	XP_011523945.1:p.Glu39SerfsTer?
XM_017025684.1:c.-629del	XP_016881173.1:n.-629del
XR_001753172.1:n.303del
XR_001753173.1:n.303del
XR_001753174.1:n.303del
XR_001753175.1:n.303del
XR_001753176.1:n.303del
XR_001753177.1:n.303del
XR_001753178.1:n.303del
XR_001753179.1:n.303del
XR_935055.2:n.303del
NM_015295.3:c.114del MANE Select	NP_056110.2:p.Glu39SerfsTer?