Canonical Allele Identifier: CA1365504502

Gene: CHDH

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844405_53844407delinsGTC , CM000665.2:g.53844405_53844407delinsGTC	GRCh38
NC_000003.11:g.53878432_53878434delinsGTC , CM000665.1:g.53878432_53878434delinsGTC	GRCh37
NC_000003.10:g.53853472_53853474delinsGTC	NCBI36
NG_028042.1:g.6987_6989delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1676_-131+1678delinsGAC MANE Select	ENSP00000319851.5:n.-131+1676_-131+1678delinsGAC
ENST00000315251.10:c.-131+1676_-131+1678delinsGAC	ENSP00000319851.5:n.-131+1676_-131+1678delinsGAC
ENST00000467802.1:c.-131+306_-131+308delinsGAC	ENSP00000419863.1:n.-131+306_-131+308delinsGAC
ENST00000481668.5:c.-131+175_-131+177delinsGAC	ENSP00000418273.1:n.-131+175_-131+177delinsGAC
NM_018397.4:c.-131+1676_-131+1678delinsGAC	NP_060867.2:n.-131+1676_-131+1678delinsGAC
XM_006713250.2:c.-131+1676_-131+1678delinsGAC	XP_006713313.1:n.-131+1676_-131+1678delinsGAC
XM_006713251.2:c.-131+1415_-131+1417delinsGAC	XP_006713314.1:n.-131+1415_-131+1417delinsGAC
XM_006713252.2:c.-131+1676_-131+1678delinsGAC	XP_006713315.1:n.-131+1676_-131+1678delinsGAC
XM_011533938.1:c.-131+306_-131+308delinsGAC	XP_011532240.1:n.-131+306_-131+308delinsGAC
XM_011533939.1:c.-131+436_-131+438delinsGAC	XP_011532241.1:n.-131+436_-131+438delinsGAC
XM_006713250.4:c.-131+1676_-131+1678delinsGAC	XP_006713313.1:n.-131+1676_-131+1678delinsGAC
XM_006713251.4:c.-131+1415_-131+1417delinsGAC	XP_006713314.1:n.-131+1415_-131+1417delinsGAC
XM_006713252.4:c.-131+1676_-131+1678delinsGAC	XP_006713315.1:n.-131+1676_-131+1678delinsGAC
XM_011533938.3:c.-131+306_-131+308delinsGAC	XP_011532240.1:n.-131+306_-131+308delinsGAC
XM_011533939.3:c.-131+436_-131+438delinsGAC	XP_011532241.1:n.-131+436_-131+438delinsGAC
XM_017006797.2:c.-131+306_-131+308delinsGAC	XP_016862286.1:n.-131+306_-131+308delinsGAC
XM_017006799.2:c.-131+1676_-131+1678delinsGAC	XP_016862288.1:n.-131+1676_-131+1678delinsGAC
XR_001740199.2:n.382+1676_382+1678delinsGAC
XR_002959545.1:n.382+1676_382+1678delinsGAC
NM_018397.5:c.-131+1676_-131+1678delinsGAC MANE Select	NP_060867.2:n.-131+1676_-131+1678delinsGAC