Canonical Allele Identifier: CA628094270

Gene: SMCHD1

Linked Data

• dbSNP Id: rs1348559211
• gnomAD v2: 18-2667028-TG-T
• gnomAD v4: 18-2667029-TG-T
• MyVariant Identifiers: chr18:g.2667029del (hg19) ; chr18:g.2667030del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2667030del , CM000680.2:g.2667030del	GRCh38
NC_000018.9:g.2667029del , CM000680.1:g.2667029del	GRCh37
NC_000018.8:g.2657029del	NCBI36
NG_031972.1:g.16144del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684915.1:n.580del
ENST00000688342.1:c.423del	ENSP00000508422.1:p.Leu141PhefsTer8
ENST00000320876.11:c.423del MANE Select	ENSP00000326603.7:p.Leu141PhefsTer8
ENST00000320876.10:c.423del	ENSP00000326603.6:p.Leu141PhefsTer8
NM_015295.2:c.423del	NP_056110.2:p.Leu141PhefsTer8
XM_011525642.1:c.423del	XP_011523944.1:p.Leu141PhefsTer8
XM_011525643.1:c.423del	XP_011523945.1:p.Leu141PhefsTer8
XM_011525644.1:c.39del	XP_011523946.1:p.Leu13PhefsTer8
XM_011525645.1:c.-320del	XP_011523947.1:n.-320del
XM_011525646.1:c.423del	XP_011523948.1:p.Leu141PhefsTer8
XM_011525647.1:c.423del	XP_011523949.1:p.Leu141PhefsTer8
XR_430039.1:n.612del
XR_935054.1:n.612del
XR_935055.1:n.612del
XM_011525643.2:c.423del	XP_011523945.1:p.Leu141PhefsTer8
XM_017025684.1:c.-320del	XP_016881173.1:n.-320del
XR_001753172.1:n.612del
XR_001753173.1:n.612del
XR_001753174.1:n.612del
XR_001753175.1:n.612del
XR_001753176.1:n.612del
XR_001753177.1:n.612del
XR_001753178.1:n.612del
XR_001753179.1:n.612del
XR_935055.2:n.612del
NM_015295.3:c.423del MANE Select	NP_056110.2:p.Leu141PhefsTer8