Canonical Allele Identifier: CA1365504603

Gene: CHDH

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844679_53844684delinsGAGCCT , CM000665.2:g.53844679_53844684delinsGAGCCT	GRCh38
NC_000003.11:g.53878706_53878711delinsGAGCCT , CM000665.1:g.53878706_53878711delinsGAGCCT	GRCh37
NC_000003.10:g.53853746_53853751delinsGAGCCT	NCBI36
NG_028042.1:g.6710_6715delinsAGGCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1399_-131+1404delinsAGGCTC MANE Select	ENSP00000319851.5:n.-131+1399_-131+1404delinsAGGCTC
ENST00000315251.10:c.-131+1399_-131+1404delinsAGGCTC	ENSP00000319851.5:n.-131+1399_-131+1404delinsAGGCTC
ENST00000467802.1:c.-131+29_-131+34delinsAGGCTC	ENSP00000419863.1:n.-131+29_-131+34delinsAGGCTC
NM_018397.4:c.-131+1399_-131+1404delinsAGGCTC	NP_060867.2:n.-131+1399_-131+1404delinsAGGCTC
XM_006713250.2:c.-131+1399_-131+1404delinsAGGCTC	XP_006713313.1:n.-131+1399_-131+1404delinsAGGCTC
XM_006713251.2:c.-131+1138_-131+1143delinsAGGCTC	XP_006713314.1:n.-131+1138_-131+1143delinsAGGCTC
XM_006713252.2:c.-131+1399_-131+1404delinsAGGCTC	XP_006713315.1:n.-131+1399_-131+1404delinsAGGCTC
XM_011533938.1:c.-131+29_-131+34delinsAGGCTC	XP_011532240.1:n.-131+29_-131+34delinsAGGCTC
XM_011533939.1:c.-131+159_-131+164delinsAGGCTC	XP_011532241.1:n.-131+159_-131+164delinsAGGCTC
XM_006713250.4:c.-131+1399_-131+1404delinsAGGCTC	XP_006713313.1:n.-131+1399_-131+1404delinsAGGCTC
XM_006713251.4:c.-131+1138_-131+1143delinsAGGCTC	XP_006713314.1:n.-131+1138_-131+1143delinsAGGCTC
XM_006713252.4:c.-131+1399_-131+1404delinsAGGCTC	XP_006713315.1:n.-131+1399_-131+1404delinsAGGCTC
XM_011533938.3:c.-131+29_-131+34delinsAGGCTC	XP_011532240.1:n.-131+29_-131+34delinsAGGCTC
XM_011533939.3:c.-131+159_-131+164delinsAGGCTC	XP_011532241.1:n.-131+159_-131+164delinsAGGCTC
XM_017006797.2:c.-131+29_-131+34delinsAGGCTC	XP_016862286.1:n.-131+29_-131+34delinsAGGCTC
XM_017006799.2:c.-131+1399_-131+1404delinsAGGCTC	XP_016862288.1:n.-131+1399_-131+1404delinsAGGCTC
XR_001740199.2:n.382+1399_382+1404delinsAGGCTC
XR_002959545.1:n.382+1399_382+1404delinsAGGCTC
NM_018397.5:c.-131+1399_-131+1404delinsAGGCTC MANE Select	NP_060867.2:n.-131+1399_-131+1404delinsAGGCTC