Canonical Allele Identifier: CA2640810645

Gene: SMCHD1

Linked Data

• gnomAD v4: 18-2697869-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2697871del , CM000680.2:g.2697871del	GRCh38
NC_000018.9:g.2697869del , CM000680.1:g.2697869del	GRCh37
NC_000018.8:g.2687869del	NCBI36
NG_031972.1:g.46984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1329del
ENST00000688342.1:c.1172del	ENSP00000508422.1:p.Asn391ThrfsTer2
ENST00000693213.1:n.450del
ENST00000320876.11:c.1172del MANE Select	ENSP00000326603.7:p.Asn391ThrfsTer2
ENST00000320876.10:c.1172del	ENSP00000326603.6:p.Asn391ThrfsTer2
NM_015295.2:c.1172del	NP_056110.2:p.Asn391ThrfsTer2
XM_011525642.1:c.1172del	XP_011523944.1:p.Asn391ThrfsTer2
XM_011525643.1:c.1172del	XP_011523945.1:p.Asn391ThrfsTer2
XM_011525644.1:c.788del	XP_011523946.1:p.Asn263ThrfsTer2
XM_011525645.1:c.608del	XP_011523947.1:p.Asn203ThrfsTer2
XM_011525646.1:c.1172del	XP_011523948.1:p.Asn391ThrfsTer2
XM_011525647.1:c.1172del	XP_011523949.1:p.Asn391ThrfsTer2
XR_430039.1:n.1361del
XR_935054.1:n.1361del
XR_935055.1:n.1361del
XM_011525643.2:c.1172del	XP_011523945.1:p.Asn391ThrfsTer2
XM_017025684.1:c.608del	XP_016881173.1:p.Asn203ThrfsTer2
XR_001753172.1:n.1361del
XR_001753173.1:n.1361del
XR_001753174.1:n.1361del
XR_001753175.1:n.1361del
XR_001753176.1:n.1361del
XR_001753177.1:n.1361del
XR_001753178.1:n.1361del
XR_001753179.1:n.1361del
XR_935055.2:n.1361del
NM_015295.3:c.1172del MANE Select	NP_056110.2:p.Asn391ThrfsTer2