Canonical Allele Identifier: CA2640808352

Gene: SMCHD1

Linked Data

• gnomAD v4: 18-2656127-GAGGATGGCGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2656128_2656138del , CM000680.2:g.2656128_2656138del	GRCh38
NC_000018.9:g.2656127_2656137del , CM000680.1:g.2656127_2656137del	GRCh37
NC_000018.8:g.2646127_2646137del	NCBI36
NG_031972.1:g.5242_5252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.210_220del
ENST00000688342.1:c.53_63del	ENSP00000508422.1:p.Glu18GlyfsTer11
ENST00000320876.11:c.53_63del MANE Select	ENSP00000326603.7:p.Glu18GlyfsTer11
ENST00000320876.10:c.53_63del	ENSP00000326603.6:p.Glu18GlyfsTer11
NM_015295.2:c.53_63del	NP_056110.2:p.Glu18GlyfsTer11
XM_011525642.1:c.53_63del	XP_011523944.1:p.Glu18GlyfsTer11
XM_011525643.1:c.53_63del	XP_011523945.1:p.Glu18GlyfsTer11
XM_011525646.1:c.53_63del	XP_011523948.1:p.Glu18GlyfsTer11
XM_011525647.1:c.53_63del	XP_011523949.1:p.Glu18GlyfsTer11
XR_430039.1:n.242_252del
XR_935054.1:n.242_252del
XR_935055.1:n.242_252del
XM_011525643.2:c.53_63del	XP_011523945.1:p.Glu18GlyfsTer11
XM_017025684.1:c.-690_-680del	XP_016881173.1:n.-690_-680del
XR_001753172.1:n.242_252del
XR_001753173.1:n.242_252del
XR_001753174.1:n.242_252del
XR_001753175.1:n.242_252del
XR_001753176.1:n.242_252del
XR_001753177.1:n.242_252del
XR_001753178.1:n.242_252del
XR_001753179.1:n.242_252del
XR_935055.2:n.242_252del
NM_015295.3:c.53_63del MANE Select	NP_056110.2:p.Glu18GlyfsTer11