Canonical Allele Identifier: CA1365504718

Gene: CHDH

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844906_53844911delinsATCTGG , CM000665.2:g.53844906_53844911delinsATCTGG	GRCh38
NC_000003.11:g.53878933_53878938delinsATCTGG , CM000665.1:g.53878933_53878938delinsATCTGG	GRCh37
NC_000003.10:g.53853973_53853978delinsATCTGG	NCBI36
NG_028042.1:g.6483_6488delinsCCAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1172_-131+1177delinsCCAGAT MANE Select	ENSP00000319851.5:n.-131+1172_-131+1177delinsCCAGAT
ENST00000315251.10:c.-131+1172_-131+1177delinsCCAGAT	ENSP00000319851.5:n.-131+1172_-131+1177delinsCCAGAT
NM_018397.4:c.-131+1172_-131+1177delinsCCAGAT	NP_060867.2:n.-131+1172_-131+1177delinsCCAGAT
XM_006713250.2:c.-131+1172_-131+1177delinsCCAGAT	XP_006713313.1:n.-131+1172_-131+1177delinsCCAGAT
XM_006713251.2:c.-131+911_-131+916delinsCCAGAT	XP_006713314.1:n.-131+911_-131+916delinsCCAGAT
XM_006713252.2:c.-131+1172_-131+1177delinsCCAGAT	XP_006713315.1:n.-131+1172_-131+1177delinsCCAGAT
XM_011533939.1:c.-199_-194delinsCCAGAT	XP_011532241.1:n.-199_-194delinsCCAGAT
XM_006713250.4:c.-131+1172_-131+1177delinsCCAGAT	XP_006713313.1:n.-131+1172_-131+1177delinsCCAGAT
XM_006713251.4:c.-131+911_-131+916delinsCCAGAT	XP_006713314.1:n.-131+911_-131+916delinsCCAGAT
XM_006713252.4:c.-131+1172_-131+1177delinsCCAGAT	XP_006713315.1:n.-131+1172_-131+1177delinsCCAGAT
XM_011533939.3:c.-199_-194delinsCCAGAT	XP_011532241.1:n.-199_-194delinsCCAGAT
XM_017006799.2:c.-131+1172_-131+1177delinsCCAGAT	XP_016862288.1:n.-131+1172_-131+1177delinsCCAGAT
XR_001740199.2:n.382+1172_382+1177delinsCCAGAT
XR_002959545.1:n.382+1172_382+1177delinsCCAGAT
NM_018397.5:c.-131+1172_-131+1177delinsCCAGAT MANE Select	NP_060867.2:n.-131+1172_-131+1177delinsCCAGAT