Canonical Allele Identifier: CA2280681365

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2698130_2698140delinsTTCAGGTTAGA , CM000680.2:g.2698130_2698140delinsTTCAGGTTAGA	GRCh38
NC_000018.9:g.2698128_2698138delinsTTCAGGTTAGA , CM000680.1:g.2698128_2698138delinsTTCAGGTTAGA	GRCh37
NC_000018.8:g.2688128_2688138delinsTTCAGGTTAGA	NCBI36
NG_031972.1:g.47243_47253delinsTTCAGGTTAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1499+89_1499+99delinsTTCAGGTTAGA
ENST00000688342.1:c.1342+89_1342+99delinsTTCAGGTTAGA	ENSP00000508422.1:n.1342+89_1342+99delinsTTCAGGTTAGA
ENST00000693213.1:n.620+89_620+99delinsTTCAGGTTAGA
ENST00000320876.11:c.1342+89_1342+99delinsTTCAGGTTAGA MANE Select	ENSP00000326603.7:n.1342+89_1342+99delinsTTCAGGTTAGA
ENST00000320876.10:c.1342+89_1342+99delinsTTCAGGTTAGA	ENSP00000326603.6:n.1342+89_1342+99delinsTTCAGGTTAGA
NM_015295.2:c.1342+89_1342+99delinsTTCAGGTTAGA	NP_056110.2:n.1342+89_1342+99delinsTTCAGGTTAGA
XM_011525642.1:c.1342+89_1342+99delinsTTCAGGTTAGA	XP_011523944.1:n.1342+89_1342+99delinsTTCAGGTTAGA
XM_011525643.1:c.1342+89_1342+99delinsTTCAGGTTAGA	XP_011523945.1:n.1342+89_1342+99delinsTTCAGGTTAGA
XM_011525644.1:c.958+89_958+99delinsTTCAGGTTAGA	XP_011523946.1:n.958+89_958+99delinsTTCAGGTTAGA
XM_011525645.1:c.778+89_778+99delinsTTCAGGTTAGA	XP_011523947.1:n.778+89_778+99delinsTTCAGGTTAGA
XM_011525646.1:c.1342+89_1342+99delinsTTCAGGTTAGA	XP_011523948.1:n.1342+89_1342+99delinsTTCAGGTTAGA
XM_011525647.1:c.1342+89_1342+99delinsTTCAGGTTAGA	XP_011523949.1:n.1342+89_1342+99delinsTTCAGGTTAGA
XR_430039.1:n.1531+89_1531+99delinsTTCAGGTTAGA
XR_935054.1:n.1531+89_1531+99delinsTTCAGGTTAGA
XR_935055.1:n.1531+89_1531+99delinsTTCAGGTTAGA
XM_011525643.2:c.1342+89_1342+99delinsTTCAGGTTAGA	XP_011523945.1:n.1342+89_1342+99delinsTTCAGGTTAGA
XM_017025684.1:c.778+89_778+99delinsTTCAGGTTAGA	XP_016881173.1:n.778+89_778+99delinsTTCAGGTTAGA
XR_001753172.1:n.1531+89_1531+99delinsTTCAGGTTAGA
XR_001753173.1:n.1531+89_1531+99delinsTTCAGGTTAGA
XR_001753174.1:n.1531+89_1531+99delinsTTCAGGTTAGA
XR_001753175.1:n.1531+89_1531+99delinsTTCAGGTTAGA
XR_001753176.1:n.1531+89_1531+99delinsTTCAGGTTAGA
XR_001753177.1:n.1531+89_1531+99delinsTTCAGGTTAGA
XR_001753178.1:n.1531+89_1531+99delinsTTCAGGTTAGA
XR_001753179.1:n.1531+89_1531+99delinsTTCAGGTTAGA
XR_935055.2:n.1531+89_1531+99delinsTTCAGGTTAGA
NM_015295.3:c.1342+89_1342+99delinsTTCAGGTTAGA MANE Select	NP_056110.2:n.1342+89_1342+99delinsTTCAGGTTAGA