Canonical Allele Identifier: CA2569549152

Gene: SMCHD1

Linked Data

• gnomAD v4: 18-2694648-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2694649dup , CM000680.2:g.2694649dup	GRCh38
NC_000018.9:g.2694647dup , CM000680.1:g.2694647dup	GRCh37
NC_000018.8:g.2684647dup	NCBI36
NG_031972.1:g.43762dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1153dup
ENST00000688342.1:c.996dup	ENSP00000508422.1:p.Gln333ThrfsTer29
ENST00000693213.1:n.274dup
ENST00000320876.11:c.996dup MANE Select	ENSP00000326603.7:p.Gln333ThrfsTer29
ENST00000320876.10:c.996dup	ENSP00000326603.6:p.Gln333ThrfsTer29
ENST00000581226.1:n.230dup
NM_015295.2:c.996dup	NP_056110.2:p.Gln333ThrfsTer29
XM_011525642.1:c.996dup	XP_011523944.1:p.Gln333ThrfsTer29
XM_011525643.1:c.996dup	XP_011523945.1:p.Gln333ThrfsTer29
XM_011525644.1:c.612dup	XP_011523946.1:p.Gln205ThrfsTer29
XM_011525645.1:c.432dup	XP_011523947.1:p.Gln145ThrfsTer29
XM_011525646.1:c.996dup	XP_011523948.1:p.Gln333ThrfsTer29
XM_011525647.1:c.996dup	XP_011523949.1:p.Gln333ThrfsTer29
XR_430039.1:n.1185dup
XR_935054.1:n.1185dup
XR_935055.1:n.1185dup
XM_011525643.2:c.996dup	XP_011523945.1:p.Gln333ThrfsTer29
XM_017025684.1:c.432dup	XP_016881173.1:p.Gln145ThrfsTer29
XR_001753172.1:n.1185dup
XR_001753173.1:n.1185dup
XR_001753174.1:n.1185dup
XR_001753175.1:n.1185dup
XR_001753176.1:n.1185dup
XR_001753177.1:n.1185dup
XR_001753178.1:n.1185dup
XR_001753179.1:n.1185dup
XR_935055.2:n.1185dup
NM_015295.3:c.996dup MANE Select	NP_056110.2:p.Gln333ThrfsTer29