Canonical Allele Identifier: CA2280681315

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2698015_2698016delinsAC , CM000680.2:g.2698015_2698016delinsAC	GRCh38
NC_000018.9:g.2698013_2698014delinsAC , CM000680.1:g.2698013_2698014delinsAC	GRCh37
NC_000018.8:g.2688013_2688014delinsAC	NCBI36
NG_031972.1:g.47128_47129delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1473_1474delinsAC
ENST00000688342.1:c.1316_1317delinsAC	ENSP00000508422.1:p.Tyr439=
ENST00000693213.1:n.594_595delinsAC
ENST00000320876.11:c.1316_1317delinsAC MANE Select	ENSP00000326603.7:p.Tyr439=
ENST00000320876.10:c.1316_1317delinsAC	ENSP00000326603.6:p.Tyr439=
NM_015295.2:c.1316_1317delinsAC	NP_056110.2:p.Tyr439=
XM_011525642.1:c.1316_1317delinsAC	XP_011523944.1:p.Tyr439=
XM_011525643.1:c.1316_1317delinsAC	XP_011523945.1:p.Tyr439=
XM_011525644.1:c.932_933delinsAC	XP_011523946.1:p.Tyr311=
XM_011525645.1:c.752_753delinsAC	XP_011523947.1:p.Tyr251=
XM_011525646.1:c.1316_1317delinsAC	XP_011523948.1:p.Tyr439=
XM_011525647.1:c.1316_1317delinsAC	XP_011523949.1:p.Tyr439=
XR_430039.1:n.1505_1506delinsAC
XR_935054.1:n.1505_1506delinsAC
XR_935055.1:n.1505_1506delinsAC
XM_011525643.2:c.1316_1317delinsAC	XP_011523945.1:p.Tyr439=
XM_017025684.1:c.752_753delinsAC	XP_016881173.1:p.Tyr251=
XR_001753172.1:n.1505_1506delinsAC
XR_001753173.1:n.1505_1506delinsAC
XR_001753174.1:n.1505_1506delinsAC
XR_001753175.1:n.1505_1506delinsAC
XR_001753176.1:n.1505_1506delinsAC
XR_001753177.1:n.1505_1506delinsAC
XR_001753178.1:n.1505_1506delinsAC
XR_001753179.1:n.1505_1506delinsAC
XR_935055.2:n.1505_1506delinsAC
NM_015295.3:c.1316_1317delinsAC MANE Select	NP_056110.2:p.Tyr439=