Canonical Allele Identifier: CA1365504715

Gene: CHDH

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844905_53844910delinsCATCTG , CM000665.2:g.53844905_53844910delinsCATCTG	GRCh38
NC_000003.11:g.53878932_53878937delinsCATCTG , CM000665.1:g.53878932_53878937delinsCATCTG	GRCh37
NC_000003.10:g.53853972_53853977delinsCATCTG	NCBI36
NG_028042.1:g.6484_6489delinsCAGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1173_-131+1178delinsCAGATG MANE Select	ENSP00000319851.5:n.-131+1173_-131+1178delinsCAGATG
ENST00000315251.10:c.-131+1173_-131+1178delinsCAGATG	ENSP00000319851.5:n.-131+1173_-131+1178delinsCAGATG
NM_018397.4:c.-131+1173_-131+1178delinsCAGATG	NP_060867.2:n.-131+1173_-131+1178delinsCAGATG
XM_006713250.2:c.-131+1173_-131+1178delinsCAGATG	XP_006713313.1:n.-131+1173_-131+1178delinsCAGATG
XM_006713251.2:c.-131+912_-131+917delinsCAGATG	XP_006713314.1:n.-131+912_-131+917delinsCAGATG
XM_006713252.2:c.-131+1173_-131+1178delinsCAGATG	XP_006713315.1:n.-131+1173_-131+1178delinsCAGATG
XM_011533939.1:c.-198_-193delinsCAGATG	XP_011532241.1:n.-198_-193delinsCAGATG
XM_006713250.4:c.-131+1173_-131+1178delinsCAGATG	XP_006713313.1:n.-131+1173_-131+1178delinsCAGATG
XM_006713251.4:c.-131+912_-131+917delinsCAGATG	XP_006713314.1:n.-131+912_-131+917delinsCAGATG
XM_006713252.4:c.-131+1173_-131+1178delinsCAGATG	XP_006713315.1:n.-131+1173_-131+1178delinsCAGATG
XM_011533939.3:c.-198_-193delinsCAGATG	XP_011532241.1:n.-198_-193delinsCAGATG
XM_017006799.2:c.-131+1173_-131+1178delinsCAGATG	XP_016862288.1:n.-131+1173_-131+1178delinsCAGATG
XR_001740199.2:n.382+1173_382+1178delinsCAGATG
XR_002959545.1:n.382+1173_382+1178delinsCAGATG
NM_018397.5:c.-131+1173_-131+1178delinsCAGATG MANE Select	NP_060867.2:n.-131+1173_-131+1178delinsCAGATG