Canonical Allele Identifier: CA2640810646

Gene: SMCHD1

Linked Data

• gnomAD v4: 18-2697887-AGAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2697891_2697893del , CM000680.2:g.2697891_2697893del	GRCh38
NC_000018.9:g.2697889_2697891del , CM000680.1:g.2697889_2697891del	GRCh37
NC_000018.8:g.2687889_2687891del	NCBI36
NG_031972.1:g.47004_47006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1349_1351del
ENST00000688342.1:c.1192_1194del	ENSP00000508422.1:p.Asp398del
ENST00000693213.1:n.470_472del
ENST00000320876.11:c.1192_1194del MANE Select	ENSP00000326603.7:p.Asp398del
ENST00000320876.10:c.1192_1194del	ENSP00000326603.6:p.Asp398del
NM_015295.2:c.1192_1194del	NP_056110.2:p.Asp398del
XM_011525642.1:c.1192_1194del	XP_011523944.1:p.Asp398del
XM_011525643.1:c.1192_1194del	XP_011523945.1:p.Asp398del
XM_011525644.1:c.808_810del	XP_011523946.1:p.Asp270del
XM_011525645.1:c.628_630del	XP_011523947.1:p.Asp210del
XM_011525646.1:c.1192_1194del	XP_011523948.1:p.Asp398del
XM_011525647.1:c.1192_1194del	XP_011523949.1:p.Asp398del
XR_430039.1:n.1381_1383del
XR_935054.1:n.1381_1383del
XR_935055.1:n.1381_1383del
XM_011525643.2:c.1192_1194del	XP_011523945.1:p.Asp398del
XM_017025684.1:c.628_630del	XP_016881173.1:p.Asp210del
XR_001753172.1:n.1381_1383del
XR_001753173.1:n.1381_1383del
XR_001753174.1:n.1381_1383del
XR_001753175.1:n.1381_1383del
XR_001753176.1:n.1381_1383del
XR_001753177.1:n.1381_1383del
XR_001753178.1:n.1381_1383del
XR_001753179.1:n.1381_1383del
XR_935055.2:n.1381_1383del
NM_015295.3:c.1192_1194del MANE Select	NP_056110.2:p.Asp398del