Canonical Allele Identifier: CA628094314

Gene: SMCHD1

Linked Data

• dbSNP Id: rs1482585220
• gnomAD v2: 18-2697899-CGTT-C
• gnomAD v4: 18-2697901-CGTT-C
• MyVariant Identifiers: chr18:g.2697900_2697902del (hg19) ; chr18:g.2697902_2697904del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2697904_2697906del , CM000680.2:g.2697904_2697906del	GRCh38
NC_000018.9:g.2697902_2697904del , CM000680.1:g.2697902_2697904del	GRCh37
NC_000018.8:g.2687902_2687904del	NCBI36
NG_031972.1:g.47017_47019del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1362_1364del
ENST00000688342.1:c.1205_1207del	ENSP00000508422.1:p.Leu402del
ENST00000693213.1:n.483_485del
ENST00000320876.11:c.1205_1207del MANE Select	ENSP00000326603.7:p.Leu402del
ENST00000320876.10:c.1205_1207del	ENSP00000326603.6:p.Leu402del
NM_015295.2:c.1205_1207del	NP_056110.2:p.Leu402del
XM_011525642.1:c.1205_1207del	XP_011523944.1:p.Leu402del
XM_011525643.1:c.1205_1207del	XP_011523945.1:p.Leu402del
XM_011525644.1:c.821_823del	XP_011523946.1:p.Leu274del
XM_011525645.1:c.641_643del	XP_011523947.1:p.Leu214del
XM_011525646.1:c.1205_1207del	XP_011523948.1:p.Leu402del
XM_011525647.1:c.1205_1207del	XP_011523949.1:p.Leu402del
XR_430039.1:n.1394_1396del
XR_935054.1:n.1394_1396del
XR_935055.1:n.1394_1396del
XM_011525643.2:c.1205_1207del	XP_011523945.1:p.Leu402del
XM_017025684.1:c.641_643del	XP_016881173.1:p.Leu214del
XR_001753172.1:n.1394_1396del
XR_001753173.1:n.1394_1396del
XR_001753174.1:n.1394_1396del
XR_001753175.1:n.1394_1396del
XR_001753176.1:n.1394_1396del
XR_001753177.1:n.1394_1396del
XR_001753178.1:n.1394_1396del
XR_001753179.1:n.1394_1396del
XR_935055.2:n.1394_1396del
NM_015295.3:c.1205_1207del MANE Select	NP_056110.2:p.Leu402del