Canonical Allele Identifier: CA987214493

Gene: SMCHD1

Linked Data

• gnomAD v3: 18-2698174-A-ATAAATATTAAATGTTTTCTTATGCAAGTCTTAGG
• gnomAD v4: 18-2698174-A-ATAAATATTAAATGTTTTCTTATGCAAGTCTTAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2698175_2698176insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT , CM000680.2:g.2698175_2698176insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT	GRCh38
NC_000018.9:g.2698173_2698174insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT , CM000680.1:g.2698173_2698174insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT	GRCh37
NC_000018.8:g.2688173_2688174insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT	NCBI36
NG_031972.1:g.47288_47289insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1499+134_1499+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT
ENST00000688342.1:c.1342+134_1342+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT	ENSP00000508422.1:n.1342+134_1342+135insAAATATTAAATGTTTTCTTAT...
ENST00000693213.1:n.620+134_620+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT
ENST00000320876.11:c.1342+134_1342+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT MANE Select	ENSP00000326603.7:n.1342+134_1342+135insAAATATTAAATGTTTTCTTAT...
ENST00000320876.10:c.1342+134_1342+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT	ENSP00000326603.6:n.1342+134_1342+135insAAATATTAAATGTTTTCTTAT...
NM_015295.2:c.1342+134_1342+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT	NP_056110.2:n.1342+134_1342+135insAAATATTAAATGTTTTCTTATGCAAGT...
XM_011525642.1:c.1342+134_1342+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT	XP_011523944.1:n.1342+134_1342+135insAAATATTAAATGTTTTCTTATGCA...
XM_011525643.1:c.1342+134_1342+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT	XP_011523945.1:n.1342+134_1342+135insAAATATTAAATGTTTTCTTATGCA...
XM_011525644.1:c.958+134_958+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT	XP_011523946.1:n.958+134_958+135insAAATATTAAATGTTTTCTTATGCAAG...
XM_011525645.1:c.778+134_778+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT	XP_011523947.1:n.778+134_778+135insAAATATTAAATGTTTTCTTATGCAAG...
XM_011525646.1:c.1342+134_1342+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT	XP_011523948.1:n.1342+134_1342+135insAAATATTAAATGTTTTCTTATGCA...
XM_011525647.1:c.1342+134_1342+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT	XP_011523949.1:n.1342+134_1342+135insAAATATTAAATGTTTTCTTATGCA...
XR_430039.1:n.1531+134_1531+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT
XR_935054.1:n.1531+134_1531+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT
XR_935055.1:n.1531+134_1531+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT
XM_011525643.2:c.1342+134_1342+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT	XP_011523945.1:n.1342+134_1342+135insAAATATTAAATGTTTTCTTATGCA...
XM_017025684.1:c.778+134_778+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT	XP_016881173.1:n.778+134_778+135insAAATATTAAATGTTTTCTTATGCAAG...
XR_001753172.1:n.1531+134_1531+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT
XR_001753173.1:n.1531+134_1531+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT
XR_001753174.1:n.1531+134_1531+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT
XR_001753175.1:n.1531+134_1531+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT
XR_001753176.1:n.1531+134_1531+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT
XR_001753177.1:n.1531+134_1531+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT
XR_001753178.1:n.1531+134_1531+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT
XR_001753179.1:n.1531+134_1531+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT
XR_935055.2:n.1531+134_1531+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT
NM_015295.3:c.1342+134_1342+135insAAATATTAAATGTTTTCTTATGCAAGTCTTAGGT MANE Select	NP_056110.2:n.1342+134_1342+135insAAATATTAAATGTTTTCTTATGCAAGT...