Canonical Allele Identifier: CA2640810270

Gene: SMCHD1

Linked Data

• gnomAD v4: 18-2694580-TATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2694583_2694585del , CM000680.2:g.2694583_2694585del	GRCh38
NC_000018.9:g.2694581_2694583del , CM000680.1:g.2694581_2694583del	GRCh37
NC_000018.8:g.2684581_2684583del	NCBI36
NG_031972.1:g.43696_43698del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1087_1089del
ENST00000688342.1:c.930_932del	ENSP00000508422.1:p.Ile311del
ENST00000693213.1:n.208_210del
ENST00000320876.11:c.930_932del MANE Select	ENSP00000326603.7:p.Ile311del
ENST00000320876.10:c.930_932del	ENSP00000326603.6:p.Ile311del
ENST00000581226.1:n.164_166del
NM_015295.2:c.930_932del	NP_056110.2:p.Ile311del
XM_011525642.1:c.930_932del	XP_011523944.1:p.Ile311del
XM_011525643.1:c.930_932del	XP_011523945.1:p.Ile311del
XM_011525644.1:c.546_548del	XP_011523946.1:p.Ile183del
XM_011525645.1:c.366_368del	XP_011523947.1:p.Ile123del
XM_011525646.1:c.930_932del	XP_011523948.1:p.Ile311del
XM_011525647.1:c.930_932del	XP_011523949.1:p.Ile311del
XR_430039.1:n.1119_1121del
XR_935054.1:n.1119_1121del
XR_935055.1:n.1119_1121del
XM_011525643.2:c.930_932del	XP_011523945.1:p.Ile311del
XM_017025684.1:c.366_368del	XP_016881173.1:p.Ile123del
XR_001753172.1:n.1119_1121del
XR_001753173.1:n.1119_1121del
XR_001753174.1:n.1119_1121del
XR_001753175.1:n.1119_1121del
XR_001753176.1:n.1119_1121del
XR_001753177.1:n.1119_1121del
XR_001753178.1:n.1119_1121del
XR_001753179.1:n.1119_1121del
XR_935055.2:n.1119_1121del
NM_015295.3:c.930_932del MANE Select	NP_056110.2:p.Ile311del