Canonical Allele Identifier: CA777973586

Gene: SMCHD1

Linked Data

• dbSNP Id: rs1180157340
• gnomAD v3: 18-2698241-CTT-C
• gnomAD v4: 18-2698241-CTT-C
• MyVariant Identifiers: chr18:g.2698240_2698241del (hg19) ; chr18:g.2698242_2698243del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2698243_2698244del , CM000680.2:g.2698243_2698244del	GRCh38
NC_000018.9:g.2698241_2698242del , CM000680.1:g.2698241_2698242del	GRCh37
NC_000018.8:g.2688241_2688242del	NCBI36
NG_031972.1:g.47356_47357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1499+202_1499+203del
ENST00000688342.1:c.1342+202_1342+203del	ENSP00000508422.1:n.1342+202_1342+203del
ENST00000693213.1:n.620+202_620+203del
ENST00000320876.11:c.1342+202_1342+203del MANE Select	ENSP00000326603.7:n.1342+202_1342+203del
ENST00000320876.10:c.1342+202_1342+203del	ENSP00000326603.6:n.1342+202_1342+203del
NM_015295.2:c.1342+202_1342+203del	NP_056110.2:n.1342+202_1342+203del
XM_011525642.1:c.1342+202_1342+203del	XP_011523944.1:n.1342+202_1342+203del
XM_011525643.1:c.1342+202_1342+203del	XP_011523945.1:n.1342+202_1342+203del
XM_011525644.1:c.958+202_958+203del	XP_011523946.1:n.958+202_958+203del
XM_011525645.1:c.778+202_778+203del	XP_011523947.1:n.778+202_778+203del
XM_011525646.1:c.1342+202_1342+203del	XP_011523948.1:n.1342+202_1342+203del
XM_011525647.1:c.1342+202_1342+203del	XP_011523949.1:n.1342+202_1342+203del
XR_430039.1:n.1531+202_1531+203del
XR_935054.1:n.1531+202_1531+203del
XR_935055.1:n.1531+202_1531+203del
XM_011525643.2:c.1342+202_1342+203del	XP_011523945.1:n.1342+202_1342+203del
XM_017025684.1:c.778+202_778+203del	XP_016881173.1:n.778+202_778+203del
XR_001753172.1:n.1531+202_1531+203del
XR_001753173.1:n.1531+202_1531+203del
XR_001753174.1:n.1531+202_1531+203del
XR_001753175.1:n.1531+202_1531+203del
XR_001753176.1:n.1531+202_1531+203del
XR_001753177.1:n.1531+202_1531+203del
XR_001753178.1:n.1531+202_1531+203del
XR_001753179.1:n.1531+202_1531+203del
XR_935055.2:n.1531+202_1531+203del
NM_015295.3:c.1342+202_1342+203del MANE Select	NP_056110.2:n.1342+202_1342+203del