Canonical Allele Identifier: CA2280681310

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2697997_2698002delinsTATATG , CM000680.2:g.2697997_2698002delinsTATATG	GRCh38
NC_000018.9:g.2697995_2698000delinsTATATG , CM000680.1:g.2697995_2698000delinsTATATG	GRCh37
NC_000018.8:g.2687995_2688000delinsTATATG	NCBI36
NG_031972.1:g.47110_47115delinsTATATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1455_1460delinsTATATG
ENST00000688342.1:c.1298_1303delinsTATATG	ENSP00000508422.1:p.Leu433=
ENST00000693213.1:n.576_581delinsTATATG
ENST00000320876.11:c.1298_1303delinsTATATG MANE Select	ENSP00000326603.7:p.Leu433=
ENST00000320876.10:c.1298_1303delinsTATATG	ENSP00000326603.6:p.Leu433=
NM_015295.2:c.1298_1303delinsTATATG	NP_056110.2:p.Leu433=
XM_011525642.1:c.1298_1303delinsTATATG	XP_011523944.1:p.Leu433=
XM_011525643.1:c.1298_1303delinsTATATG	XP_011523945.1:p.Leu433=
XM_011525644.1:c.914_919delinsTATATG	XP_011523946.1:p.Leu305=
XM_011525645.1:c.734_739delinsTATATG	XP_011523947.1:p.Leu245=
XM_011525646.1:c.1298_1303delinsTATATG	XP_011523948.1:p.Leu433=
XM_011525647.1:c.1298_1303delinsTATATG	XP_011523949.1:p.Leu433=
XR_430039.1:n.1487_1492delinsTATATG
XR_935054.1:n.1487_1492delinsTATATG
XR_935055.1:n.1487_1492delinsTATATG
XM_011525643.2:c.1298_1303delinsTATATG	XP_011523945.1:p.Leu433=
XM_017025684.1:c.734_739delinsTATATG	XP_016881173.1:p.Leu245=
XR_001753172.1:n.1487_1492delinsTATATG
XR_001753173.1:n.1487_1492delinsTATATG
XR_001753174.1:n.1487_1492delinsTATATG
XR_001753175.1:n.1487_1492delinsTATATG
XR_001753176.1:n.1487_1492delinsTATATG
XR_001753177.1:n.1487_1492delinsTATATG
XR_001753178.1:n.1487_1492delinsTATATG
XR_001753179.1:n.1487_1492delinsTATATG
XR_935055.2:n.1487_1492delinsTATATG
NM_015295.3:c.1298_1303delinsTATATG MANE Select	NP_056110.2:p.Leu433=