Canonical Allele Identifier: CA1365504596

Gene: CHDH

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844657_53844658delinsAC , CM000665.2:g.53844657_53844658delinsAC	GRCh38
NC_000003.11:g.53878684_53878685delinsAC , CM000665.1:g.53878684_53878685delinsAC	GRCh37
NC_000003.10:g.53853724_53853725delinsAC	NCBI36
NG_028042.1:g.6736_6737delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1425_-131+1426delinsGT MANE Select	ENSP00000319851.5:n.-131+1425_-131+1426delinsGT
ENST00000315251.10:c.-131+1425_-131+1426delinsGT	ENSP00000319851.5:n.-131+1425_-131+1426delinsGT
ENST00000467802.1:c.-131+55_-131+56delinsGT	ENSP00000419863.1:n.-131+55_-131+56delinsGT
NM_018397.4:c.-131+1425_-131+1426delinsGT	NP_060867.2:n.-131+1425_-131+1426delinsGT
XM_006713250.2:c.-131+1425_-131+1426delinsGT	XP_006713313.1:n.-131+1425_-131+1426delinsGT
XM_006713251.2:c.-131+1164_-131+1165delinsGT	XP_006713314.1:n.-131+1164_-131+1165delinsGT
XM_006713252.2:c.-131+1425_-131+1426delinsGT	XP_006713315.1:n.-131+1425_-131+1426delinsGT
XM_011533938.1:c.-131+55_-131+56delinsGT	XP_011532240.1:n.-131+55_-131+56delinsGT
XM_011533939.1:c.-131+185_-131+186delinsGT	XP_011532241.1:n.-131+185_-131+186delinsGT
XM_006713250.4:c.-131+1425_-131+1426delinsGT	XP_006713313.1:n.-131+1425_-131+1426delinsGT
XM_006713251.4:c.-131+1164_-131+1165delinsGT	XP_006713314.1:n.-131+1164_-131+1165delinsGT
XM_006713252.4:c.-131+1425_-131+1426delinsGT	XP_006713315.1:n.-131+1425_-131+1426delinsGT
XM_011533938.3:c.-131+55_-131+56delinsGT	XP_011532240.1:n.-131+55_-131+56delinsGT
XM_011533939.3:c.-131+185_-131+186delinsGT	XP_011532241.1:n.-131+185_-131+186delinsGT
XM_017006797.2:c.-131+55_-131+56delinsGT	XP_016862286.1:n.-131+55_-131+56delinsGT
XM_017006799.2:c.-131+1425_-131+1426delinsGT	XP_016862288.1:n.-131+1425_-131+1426delinsGT
XR_001740199.2:n.382+1425_382+1426delinsGT
XR_002959545.1:n.382+1425_382+1426delinsGT
NM_018397.5:c.-131+1425_-131+1426delinsGT MANE Select	NP_060867.2:n.-131+1425_-131+1426delinsGT