Canonical Allele Identifier: CA2506850099

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2698120_2698121del , CM000680.2:g.2698120_2698121del	GRCh38
NC_000018.9:g.2698118_2698119del , CM000680.1:g.2698118_2698119del	GRCh37
NC_000018.8:g.2688118_2688119del	NCBI36
NG_031972.1:g.47233_47234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1499+79_1499+80del
ENST00000688342.1:c.1342+79_1342+80del	ENSP00000508422.1:n.1342+79_1342+80del
ENST00000693213.1:n.620+79_620+80del
ENST00000320876.11:c.1342+79_1342+80del MANE Select	ENSP00000326603.7:n.1342+79_1342+80del
ENST00000320876.10:c.1342+79_1342+80del	ENSP00000326603.6:n.1342+79_1342+80del
NM_015295.2:c.1342+79_1342+80del	NP_056110.2:n.1342+79_1342+80del
XM_011525642.1:c.1342+79_1342+80del	XP_011523944.1:n.1342+79_1342+80del
XM_011525643.1:c.1342+79_1342+80del	XP_011523945.1:n.1342+79_1342+80del
XM_011525644.1:c.958+79_958+80del	XP_011523946.1:n.958+79_958+80del
XM_011525645.1:c.778+79_778+80del	XP_011523947.1:n.778+79_778+80del
XM_011525646.1:c.1342+79_1342+80del	XP_011523948.1:n.1342+79_1342+80del
XM_011525647.1:c.1342+79_1342+80del	XP_011523949.1:n.1342+79_1342+80del
XR_430039.1:n.1531+79_1531+80del
XR_935054.1:n.1531+79_1531+80del
XR_935055.1:n.1531+79_1531+80del
XM_011525643.2:c.1342+79_1342+80del	XP_011523945.1:n.1342+79_1342+80del
XM_017025684.1:c.778+79_778+80del	XP_016881173.1:n.778+79_778+80del
XR_001753172.1:n.1531+79_1531+80del
XR_001753173.1:n.1531+79_1531+80del
XR_001753174.1:n.1531+79_1531+80del
XR_001753175.1:n.1531+79_1531+80del
XR_001753176.1:n.1531+79_1531+80del
XR_001753177.1:n.1531+79_1531+80del
XR_001753178.1:n.1531+79_1531+80del
XR_001753179.1:n.1531+79_1531+80del
XR_935055.2:n.1531+79_1531+80del
NM_015295.3:c.1342+79_1342+80del MANE Select	NP_056110.2:n.1342+79_1342+80del