Canonical Allele Identifier: CA2697555303

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 2683842
• ClinVar RCV Id: RCV003484456

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2700791del , CM000680.2:g.2700791del	GRCh38
NC_000018.9:g.2700789del , CM000680.1:g.2700789del	GRCh37
NC_000018.8:g.2690789del	NCBI36
NG_031972.1:g.49904del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684915.1:n.1677del
ENST00000688342.1:c.1520del	ENSP00000508422.1:p.Asn507IlefsTer20
ENST00000693213.1:n.798del
ENST00000320876.11:c.1520del MANE Select	ENSP00000326603.7:p.Asn507IlefsTer20
ENST00000320876.10:c.1520del	ENSP00000326603.6:p.Asn507IlefsTer20
ENST00000585229.1:c.15del
NM_015295.2:c.1520del	NP_056110.2:p.Asn507IlefsTer20
XM_011525642.1:c.1520del	XP_011523944.1:p.Asn507IlefsTer20
XM_011525643.1:c.1520del	XP_011523945.1:p.Asn507IlefsTer20
XM_011525644.1:c.1136del	XP_011523946.1:p.Asn379IlefsTer20
XM_011525645.1:c.956del	XP_011523947.1:p.Asn319IlefsTer20
XM_011525646.1:c.1520del	XP_011523948.1:p.Asn507IlefsTer20
XM_011525647.1:c.1520del	XP_011523949.1:p.Asn507IlefsTer20
XR_430039.1:n.1709del
XR_935054.1:n.1709del
XR_935055.1:n.1709del
XM_011525643.2:c.1520del	XP_011523945.1:p.Asn507IlefsTer20
XM_017025684.1:c.956del	XP_016881173.1:p.Asn319IlefsTer20
XR_001753172.1:n.1709del
XR_001753173.1:n.1709del
XR_001753174.1:n.1709del
XR_001753175.1:n.1709del
XR_001753176.1:n.1709del
XR_001753177.1:n.1709del
XR_001753178.1:n.1709del
XR_001753179.1:n.1709del
XR_935055.2:n.1709del
NM_015295.3:c.1520del MANE Select	NP_056110.2:p.Asn507IlefsTer20