Canonical Allele Identifier: CA2280683806

Gene: SMCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2703712_2703714delinsCAG , CM000680.2:g.2703712_2703714delinsCAG	GRCh38
NC_000018.9:g.2703710_2703712delinsCAG , CM000680.1:g.2703710_2703712delinsCAG	GRCh37
NC_000018.8:g.2693710_2693712delinsCAG	NCBI36
NG_031972.1:g.52825_52827delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1825_1827delinsCAG
ENST00000688342.1:c.1668_1670delinsCAG	ENSP00000508422.1:p.Asp556=
ENST00000693213.1:n.946_948delinsCAG
ENST00000320876.11:c.1668_1670delinsCAG MANE Select	ENSP00000326603.7:p.Asp556=
ENST00000320876.10:c.1668_1670delinsCAG	ENSP00000326603.6:p.Asp556=
ENST00000577300.1:n.19_21delinsCAG
ENST00000577880.5:c.81_83delinsCAG	ENSP00000463049.1:p.Asp27=
NM_015295.2:c.1668_1670delinsCAG	NP_056110.2:p.Asp556=
XM_011525642.1:c.1668_1670delinsCAG	XP_011523944.1:p.Asp556=
XM_011525643.1:c.1668_1670delinsCAG	XP_011523945.1:p.Asp556=
XM_011525644.1:c.1284_1286delinsCAG	XP_011523946.1:p.Asp428=
XM_011525645.1:c.1104_1106delinsCAG	XP_011523947.1:p.Asp368=
XM_011525646.1:c.1668_1670delinsCAG	XP_011523948.1:p.Asp556=
XM_011525647.1:c.1668_1670delinsCAG	XP_011523949.1:p.Asp556=
XR_430039.1:n.1857_1859delinsCAG
XR_935054.1:n.1857_1859delinsCAG
XR_935055.1:n.1857_1859delinsCAG
XM_011525643.2:c.1668_1670delinsCAG	XP_011523945.1:p.Asp556=
XM_017025684.1:c.1104_1106delinsCAG	XP_016881173.1:p.Asp368=
XR_001753172.1:n.1857_1859delinsCAG
XR_001753173.1:n.1857_1859delinsCAG
XR_001753174.1:n.1857_1859delinsCAG
XR_001753175.1:n.1857_1859delinsCAG
XR_001753176.1:n.1857_1859delinsCAG
XR_001753177.1:n.1857_1859delinsCAG
XR_001753178.1:n.1857_1859delinsCAG
XR_001753179.1:n.1857_1859delinsCAG
XR_935055.2:n.1857_1859delinsCAG
NM_015295.3:c.1668_1670delinsCAG MANE Select	NP_056110.2:p.Asp556=