Canonical Allele Identifier: CA2838992395

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2697912_2697913del , CM000680.2:g.2697912_2697913del	GRCh38
NC_000018.9:g.2697910_2697911del , CM000680.1:g.2697910_2697911del	GRCh37
NC_000018.8:g.2687910_2687911del	NCBI36
NG_031972.1:g.47025_47026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1370_1371del
ENST00000688342.1:c.1213_1214del	ENSP00000508422.1:p.Asn405HisfsTer4
ENST00000693213.1:n.491_492del
ENST00000320876.11:c.1213_1214del MANE Select	ENSP00000326603.7:p.Asn405HisfsTer4
ENST00000320876.10:c.1213_1214del	ENSP00000326603.6:p.Asn405HisfsTer4
NM_015295.2:c.1213_1214del	NP_056110.2:p.Asn405HisfsTer4
XM_011525642.1:c.1213_1214del	XP_011523944.1:p.Asn405HisfsTer4
XM_011525643.1:c.1213_1214del	XP_011523945.1:p.Asn405HisfsTer4
XM_011525644.1:c.829_830del	XP_011523946.1:p.Asn277HisfsTer4
XM_011525645.1:c.649_650del	XP_011523947.1:p.Asn217HisfsTer4
XM_011525646.1:c.1213_1214del	XP_011523948.1:p.Asn405HisfsTer4
XM_011525647.1:c.1213_1214del	XP_011523949.1:p.Asn405HisfsTer4
XR_430039.1:n.1402_1403del
XR_935054.1:n.1402_1403del
XR_935055.1:n.1402_1403del
XM_011525643.2:c.1213_1214del	XP_011523945.1:p.Asn405HisfsTer4
XM_017025684.1:c.649_650del	XP_016881173.1:p.Asn217HisfsTer4
XR_001753172.1:n.1402_1403del
XR_001753173.1:n.1402_1403del
XR_001753174.1:n.1402_1403del
XR_001753175.1:n.1402_1403del
XR_001753176.1:n.1402_1403del
XR_001753177.1:n.1402_1403del
XR_001753178.1:n.1402_1403del
XR_001753179.1:n.1402_1403del
XR_935055.2:n.1402_1403del
NM_015295.3:c.1213_1214del MANE Select	NP_056110.2:p.Asn405HisfsTer4