Canonical Allele Identifier: CA1365504627

Gene: CHDH

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844706_53844710delinsTACTC , CM000665.2:g.53844706_53844710delinsTACTC	GRCh38
NC_000003.11:g.53878733_53878737delinsTACTC , CM000665.1:g.53878733_53878737delinsTACTC	GRCh37
NC_000003.10:g.53853773_53853777delinsTACTC	NCBI36
NG_028042.1:g.6684_6688delinsGAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1373_-131+1377delinsGAGTA MANE Select	ENSP00000319851.5:n.-131+1373_-131+1377delinsGAGTA
ENST00000315251.10:c.-131+1373_-131+1377delinsGAGTA	ENSP00000319851.5:n.-131+1373_-131+1377delinsGAGTA
ENST00000467802.1:c.-131+3_-131+7delinsGAGTA	ENSP00000419863.1:n.-131+3_-131+7delinsGAGTA
NM_018397.4:c.-131+1373_-131+1377delinsGAGTA	NP_060867.2:n.-131+1373_-131+1377delinsGAGTA
XM_006713250.2:c.-131+1373_-131+1377delinsGAGTA	XP_006713313.1:n.-131+1373_-131+1377delinsGAGTA
XM_006713251.2:c.-131+1112_-131+1116delinsGAGTA	XP_006713314.1:n.-131+1112_-131+1116delinsGAGTA
XM_006713252.2:c.-131+1373_-131+1377delinsGAGTA	XP_006713315.1:n.-131+1373_-131+1377delinsGAGTA
XM_011533938.1:c.-131+3_-131+7delinsGAGTA	XP_011532240.1:n.-131+3_-131+7delinsGAGTA
XM_011533939.1:c.-131+133_-131+137delinsGAGTA	XP_011532241.1:n.-131+133_-131+137delinsGAGTA
XM_006713250.4:c.-131+1373_-131+1377delinsGAGTA	XP_006713313.1:n.-131+1373_-131+1377delinsGAGTA
XM_006713251.4:c.-131+1112_-131+1116delinsGAGTA	XP_006713314.1:n.-131+1112_-131+1116delinsGAGTA
XM_006713252.4:c.-131+1373_-131+1377delinsGAGTA	XP_006713315.1:n.-131+1373_-131+1377delinsGAGTA
XM_011533938.3:c.-131+3_-131+7delinsGAGTA	XP_011532240.1:n.-131+3_-131+7delinsGAGTA
XM_011533939.3:c.-131+133_-131+137delinsGAGTA	XP_011532241.1:n.-131+133_-131+137delinsGAGTA
XM_017006797.2:c.-131+3_-131+7delinsGAGTA	XP_016862286.1:n.-131+3_-131+7delinsGAGTA
XM_017006799.2:c.-131+1373_-131+1377delinsGAGTA	XP_016862288.1:n.-131+1373_-131+1377delinsGAGTA
XR_001740199.2:n.382+1373_382+1377delinsGAGTA
XR_002959545.1:n.382+1373_382+1377delinsGAGTA
NM_018397.5:c.-131+1373_-131+1377delinsGAGTA MANE Select	NP_060867.2:n.-131+1373_-131+1377delinsGAGTA