Canonical Allele Identifier: CA2640810626

Gene: SMCHD1

Linked Data

• gnomAD v4: 18-2697771-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2697772_2697773dup , CM000680.2:g.2697772_2697773dup	GRCh38
NC_000018.9:g.2697770_2697771dup , CM000680.1:g.2697770_2697771dup	GRCh37
NC_000018.8:g.2687770_2687771dup	NCBI36
NG_031972.1:g.46885_46886dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1289-59_1289-58dup
ENST00000688342.1:c.1132-59_1132-58dup	ENSP00000508422.1:n.1132-59_1132-58dup
ENST00000693213.1:n.410-59_410-58dup
ENST00000320876.11:c.1132-59_1132-58dup MANE Select	ENSP00000326603.7:n.1132-59_1132-58dup
ENST00000320876.10:c.1132-59_1132-58dup	ENSP00000326603.6:n.1132-59_1132-58dup
NM_015295.2:c.1132-59_1132-58dup	NP_056110.2:n.1132-59_1132-58dup
XM_011525642.1:c.1132-59_1132-58dup	XP_011523944.1:n.1132-59_1132-58dup
XM_011525643.1:c.1132-59_1132-58dup	XP_011523945.1:n.1132-59_1132-58dup
XM_011525644.1:c.748-59_748-58dup	XP_011523946.1:n.748-59_748-58dup
XM_011525645.1:c.568-59_568-58dup	XP_011523947.1:n.568-59_568-58dup
XM_011525646.1:c.1132-59_1132-58dup	XP_011523948.1:n.1132-59_1132-58dup
XM_011525647.1:c.1132-59_1132-58dup	XP_011523949.1:n.1132-59_1132-58dup
XR_430039.1:n.1321-59_1321-58dup
XR_935054.1:n.1321-59_1321-58dup
XR_935055.1:n.1321-59_1321-58dup
XM_011525643.2:c.1132-59_1132-58dup	XP_011523945.1:n.1132-59_1132-58dup
XM_017025684.1:c.568-59_568-58dup	XP_016881173.1:n.568-59_568-58dup
XR_001753172.1:n.1321-59_1321-58dup
XR_001753173.1:n.1321-59_1321-58dup
XR_001753174.1:n.1321-59_1321-58dup
XR_001753175.1:n.1321-59_1321-58dup
XR_001753176.1:n.1321-59_1321-58dup
XR_001753177.1:n.1321-59_1321-58dup
XR_001753178.1:n.1321-59_1321-58dup
XR_001753179.1:n.1321-59_1321-58dup
XR_935055.2:n.1321-59_1321-58dup
NM_015295.3:c.1132-59_1132-58dup MANE Select	NP_056110.2:n.1132-59_1132-58dup