Canonical Allele Identifier: CA10606383

Gene: SMCHD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2771586del , CM000680.2:g.2771586del	GRCh38
NC_000018.9:g.2771584del , CM000680.1:g.2771584del	GRCh37
NC_000018.8:g.2761584del	NCBI36
NG_031972.1:g.120699del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583344.2:n.925del
ENST00000685656.1:n.1508del
ENST00000686763.1:c.*579del	ENSP00000510263.1:n.*579del
ENST00000686864.1:c.1782del
ENST00000688342.1:c.4888del	ENSP00000508422.1:p.Ile1630TyrfsTer19
ENST00000688708.1:n.3749del
ENST00000688964.1:n.1720del
ENST00000689034.1:n.2967del
ENST00000693213.1:n.4218del
ENST00000693522.1:n.1561del
ENST00000320876.11:c.5020del MANE Select	ENSP00000326603.7:p.Ile1674TyrfsTer19
ENST00000645355.1:c.1065del
ENST00000320876.10:c.5020del	ENSP00000326603.6:p.Ile1674TyrfsTer19
ENST00000577880.5:c.3433del	ENSP00000463049.1:p.Ile1145TyrfsTer19
ENST00000584897.5:c.2840del
NM_015295.2:c.5020del	NP_056110.2:p.Ile1674TyrfsTer19
XM_011525642.1:c.5020del	XP_011523944.1:p.Ile1674TyrfsTer19
XM_011525643.1:c.5020del	XP_011523945.1:p.Ile1674TyrfsTer19
XM_011525644.1:c.4636del	XP_011523946.1:p.Ile1546TyrfsTer19
XM_011525645.1:c.4456del	XP_011523947.1:p.Ile1486TyrfsTer19
XR_430039.1:n.5209del
XR_935054.1:n.5209del
XR_935055.1:n.5209del
XM_011525643.2:c.5020del	XP_011523945.1:p.Ile1674TyrfsTer19
XM_017025684.1:c.4456del	XP_016881173.1:p.Ile1486TyrfsTer19
XR_001753172.1:n.5209del
XR_001753173.1:n.5209del
XR_001753174.1:n.5209del
XR_001753175.1:n.5209del
XR_001753176.1:n.5209del
XR_001753177.1:n.5121del
XR_001753178.1:n.5129del
XR_001753179.1:n.5041del
XR_935055.2:n.5209del
NM_015295.3:c.5020del MANE Select	NP_056110.2:p.Ile1674TyrfsTer19