Canonical Allele Identifier: CA2640810596

Gene: SMCHD1

Linked Data

• gnomAD v4: 18-2697719-GTTAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2697722_2697725del , CM000680.2:g.2697722_2697725del	GRCh38
NC_000018.9:g.2697720_2697723del , CM000680.1:g.2697720_2697723del	GRCh37
NC_000018.8:g.2687720_2687723del	NCBI36
NG_031972.1:g.46835_46838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1289-109_1289-106del
ENST00000688342.1:c.1132-109_1132-106del	ENSP00000508422.1:n.1132-109_1132-106del
ENST00000693213.1:n.410-109_410-106del
ENST00000320876.11:c.1132-109_1132-106del MANE Select	ENSP00000326603.7:n.1132-109_1132-106del
ENST00000320876.10:c.1132-109_1132-106del	ENSP00000326603.6:n.1132-109_1132-106del
NM_015295.2:c.1132-109_1132-106del	NP_056110.2:n.1132-109_1132-106del
XM_011525642.1:c.1132-109_1132-106del	XP_011523944.1:n.1132-109_1132-106del
XM_011525643.1:c.1132-109_1132-106del	XP_011523945.1:n.1132-109_1132-106del
XM_011525644.1:c.748-109_748-106del	XP_011523946.1:n.748-109_748-106del
XM_011525645.1:c.568-109_568-106del	XP_011523947.1:n.568-109_568-106del
XM_011525646.1:c.1132-109_1132-106del	XP_011523948.1:n.1132-109_1132-106del
XM_011525647.1:c.1132-109_1132-106del	XP_011523949.1:n.1132-109_1132-106del
XR_430039.1:n.1321-109_1321-106del
XR_935054.1:n.1321-109_1321-106del
XR_935055.1:n.1321-109_1321-106del
XM_011525643.2:c.1132-109_1132-106del	XP_011523945.1:n.1132-109_1132-106del
XM_017025684.1:c.568-109_568-106del	XP_016881173.1:n.568-109_568-106del
XR_001753172.1:n.1321-109_1321-106del
XR_001753173.1:n.1321-109_1321-106del
XR_001753174.1:n.1321-109_1321-106del
XR_001753175.1:n.1321-109_1321-106del
XR_001753176.1:n.1321-109_1321-106del
XR_001753177.1:n.1321-109_1321-106del
XR_001753178.1:n.1321-109_1321-106del
XR_001753179.1:n.1321-109_1321-106del
XR_935055.2:n.1321-109_1321-106del
NM_015295.3:c.1132-109_1132-106del MANE Select	NP_056110.2:n.1132-109_1132-106del