Canonical Allele Identifier: CA2666148207

Gene: CHDH

Linked Data

• gnomAD v4: 3-53844620-A-ACCGAGATCT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844620_53844621insCCGAGATCT , CM000665.2:g.53844620_53844621insCCGAGATCT	GRCh38
NC_000003.11:g.53878647_53878648insCCGAGATCT , CM000665.1:g.53878647_53878648insCCGAGATCT	GRCh37
NC_000003.10:g.53853687_53853688insCCGAGATCT	NCBI36
NG_028042.1:g.6773_6774insAGATCTCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1462_-131+1463insAGATCTCGG MANE Select	ENSP00000319851.5:n.-131+1462_-131+1463insAGATCTCGG
ENST00000315251.10:c.-131+1462_-131+1463insAGATCTCGG	ENSP00000319851.5:n.-131+1462_-131+1463insAGATCTCGG
ENST00000467802.1:c.-131+92_-131+93insAGATCTCGG	ENSP00000419863.1:n.-131+92_-131+93insAGATCTCGG
NM_018397.4:c.-131+1462_-131+1463insAGATCTCGG	NP_060867.2:n.-131+1462_-131+1463insAGATCTCGG
XM_006713250.2:c.-131+1462_-131+1463insAGATCTCGG	XP_006713313.1:n.-131+1462_-131+1463insAGATCTCGG
XM_006713251.2:c.-131+1201_-131+1202insAGATCTCGG	XP_006713314.1:n.-131+1201_-131+1202insAGATCTCGG
XM_006713252.2:c.-131+1462_-131+1463insAGATCTCGG	XP_006713315.1:n.-131+1462_-131+1463insAGATCTCGG
XM_011533938.1:c.-131+92_-131+93insAGATCTCGG	XP_011532240.1:n.-131+92_-131+93insAGATCTCGG
XM_011533939.1:c.-131+222_-131+223insAGATCTCGG	XP_011532241.1:n.-131+222_-131+223insAGATCTCGG
XM_006713250.4:c.-131+1462_-131+1463insAGATCTCGG	XP_006713313.1:n.-131+1462_-131+1463insAGATCTCGG
XM_006713251.4:c.-131+1201_-131+1202insAGATCTCGG	XP_006713314.1:n.-131+1201_-131+1202insAGATCTCGG
XM_006713252.4:c.-131+1462_-131+1463insAGATCTCGG	XP_006713315.1:n.-131+1462_-131+1463insAGATCTCGG
XM_011533938.3:c.-131+92_-131+93insAGATCTCGG	XP_011532240.1:n.-131+92_-131+93insAGATCTCGG
XM_011533939.3:c.-131+222_-131+223insAGATCTCGG	XP_011532241.1:n.-131+222_-131+223insAGATCTCGG
XM_017006797.2:c.-131+92_-131+93insAGATCTCGG	XP_016862286.1:n.-131+92_-131+93insAGATCTCGG
XM_017006799.2:c.-131+1462_-131+1463insAGATCTCGG	XP_016862288.1:n.-131+1462_-131+1463insAGATCTCGG
XR_001740199.2:n.382+1462_382+1463insAGATCTCGG
XR_002959545.1:n.382+1462_382+1463insAGATCTCGG
NM_018397.5:c.-131+1462_-131+1463insAGATCTCGG MANE Select	NP_060867.2:n.-131+1462_-131+1463insAGATCTCGG