Canonical Allele Identifier: CA2280666808

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2667029_2667030delinsTG , CM000680.2:g.2667029_2667030delinsTG	GRCh38
NC_000018.9:g.2667028_2667029delinsTG , CM000680.1:g.2667028_2667029delinsTG	GRCh37
NC_000018.8:g.2657028_2657029delinsTG	NCBI36
NG_031972.1:g.16143_16144delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000684915.1:n.579_580delinsTG
ENST00000688342.1:c.422_423delinsTG	ENSP00000508422.1:p.Leu141=
ENST00000320876.11:c.422_423delinsTG MANE Select	ENSP00000326603.7:p.Leu141=
ENST00000320876.10:c.422_423delinsTG	ENSP00000326603.6:p.Leu141=
NM_015295.2:c.422_423delinsTG	NP_056110.2:p.Leu141=
XM_011525642.1:c.422_423delinsTG	XP_011523944.1:p.Leu141=
XM_011525643.1:c.422_423delinsTG	XP_011523945.1:p.Leu141=
XM_011525644.1:c.38_39delinsTG	XP_011523946.1:p.Leu13=
XM_011525645.1:c.-321_-320delinsTG	XP_011523947.1:n.-321_-320delinsTG
XM_011525646.1:c.422_423delinsTG	XP_011523948.1:p.Leu141=
XM_011525647.1:c.422_423delinsTG	XP_011523949.1:p.Leu141=
XR_430039.1:n.611_612delinsTG
XR_935054.1:n.611_612delinsTG
XR_935055.1:n.611_612delinsTG
XM_011525643.2:c.422_423delinsTG	XP_011523945.1:p.Leu141=
XM_017025684.1:c.-321_-320delinsTG	XP_016881173.1:n.-321_-320delinsTG
XR_001753172.1:n.611_612delinsTG
XR_001753173.1:n.611_612delinsTG
XR_001753174.1:n.611_612delinsTG
XR_001753175.1:n.611_612delinsTG
XR_001753176.1:n.611_612delinsTG
XR_001753177.1:n.611_612delinsTG
XR_001753178.1:n.611_612delinsTG
XR_001753179.1:n.611_612delinsTG
XR_935055.2:n.611_612delinsTG
NM_015295.3:c.422_423delinsTG MANE Select	NP_056110.2:p.Leu141=