Canonical Allele Identifier: CA1365504615

Gene: CHDH

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844687_53844690delinsCCCA , CM000665.2:g.53844687_53844690delinsCCCA	GRCh38
NC_000003.11:g.53878714_53878717delinsCCCA , CM000665.1:g.53878714_53878717delinsCCCA	GRCh37
NC_000003.10:g.53853754_53853757delinsCCCA	NCBI36
NG_028042.1:g.6704_6707delinsTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1393_-131+1396delinsTGGG MANE Select	ENSP00000319851.5:n.-131+1393_-131+1396delinsTGGG
ENST00000315251.10:c.-131+1393_-131+1396delinsTGGG	ENSP00000319851.5:n.-131+1393_-131+1396delinsTGGG
ENST00000467802.1:c.-131+23_-131+26delinsTGGG	ENSP00000419863.1:n.-131+23_-131+26delinsTGGG
NM_018397.4:c.-131+1393_-131+1396delinsTGGG	NP_060867.2:n.-131+1393_-131+1396delinsTGGG
XM_006713250.2:c.-131+1393_-131+1396delinsTGGG	XP_006713313.1:n.-131+1393_-131+1396delinsTGGG
XM_006713251.2:c.-131+1132_-131+1135delinsTGGG	XP_006713314.1:n.-131+1132_-131+1135delinsTGGG
XM_006713252.2:c.-131+1393_-131+1396delinsTGGG	XP_006713315.1:n.-131+1393_-131+1396delinsTGGG
XM_011533938.1:c.-131+23_-131+26delinsTGGG	XP_011532240.1:n.-131+23_-131+26delinsTGGG
XM_011533939.1:c.-131+153_-131+156delinsTGGG	XP_011532241.1:n.-131+153_-131+156delinsTGGG
XM_006713250.4:c.-131+1393_-131+1396delinsTGGG	XP_006713313.1:n.-131+1393_-131+1396delinsTGGG
XM_006713251.4:c.-131+1132_-131+1135delinsTGGG	XP_006713314.1:n.-131+1132_-131+1135delinsTGGG
XM_006713252.4:c.-131+1393_-131+1396delinsTGGG	XP_006713315.1:n.-131+1393_-131+1396delinsTGGG
XM_011533938.3:c.-131+23_-131+26delinsTGGG	XP_011532240.1:n.-131+23_-131+26delinsTGGG
XM_011533939.3:c.-131+153_-131+156delinsTGGG	XP_011532241.1:n.-131+153_-131+156delinsTGGG
XM_017006797.2:c.-131+23_-131+26delinsTGGG	XP_016862286.1:n.-131+23_-131+26delinsTGGG
XM_017006799.2:c.-131+1393_-131+1396delinsTGGG	XP_016862288.1:n.-131+1393_-131+1396delinsTGGG
XR_001740199.2:n.382+1393_382+1396delinsTGGG
XR_002959545.1:n.382+1393_382+1396delinsTGGG
NM_018397.5:c.-131+1393_-131+1396delinsTGGG MANE Select	NP_060867.2:n.-131+1393_-131+1396delinsTGGG