Canonical Allele Identifier: CA2666148193

Gene: CHDH

Linked Data

• gnomAD v4: 3-53844611-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844611_53844612insA , CM000665.2:g.53844611_53844612insA	GRCh38
NC_000003.11:g.53878638_53878639insA , CM000665.1:g.53878638_53878639insA	GRCh37
NC_000003.10:g.53853678_53853679insA	NCBI36
NG_028042.1:g.6782_6783insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000315251.11:c.-131+1471_-131+1472insT MANE Select	ENSP00000319851.5:n.-131+1471_-131+1472in...
ENST00000315251.10:c.-131+1471_-131+1472insT	ENSP00000319851.5:n.-131+1471_-131+1472in...
ENST00000467802.1:c.-131+101_-131+102insT	ENSP00000419863.1:n.-131+101_-131+102insT...
ENST00000481668.5:c.-161_-160insT	ENSP00000418273.1:n.-161_-160insT
NM_018397.4:c.-131+1471_-131+1472insT	NP_060867.2:n.-131+1471_-131+1472insT
XM_006713250.2:c.-131+1471_-131+1472insT	XP_006713313.1:n.-131+1471_-131+1472insT
XM_006713251.2:c.-131+1210_-131+1211insT	XP_006713314.1:n.-131+1210_-131+1211insT
XM_006713252.2:c.-131+1471_-131+1472insT	XP_006713315.1:n.-131+1471_-131+1472insT
XM_011533938.1:c.-131+101_-131+102insT	XP_011532240.1:n.-131+101_-131+102insT
XM_011533939.1:c.-131+231_-131+232insT	XP_011532241.1:n.-131+231_-131+232insT
XM_006713250.4:c.-131+1471_-131+1472insT	XP_006713313.1:n.-131+1471_-131+1472insT
XM_006713251.4:c.-131+1210_-131+1211insT	XP_006713314.1:n.-131+1210_-131+1211insT
XM_006713252.4:c.-131+1471_-131+1472insT	XP_006713315.1:n.-131+1471_-131+1472insT
XM_011533938.3:c.-131+101_-131+102insT	XP_011532240.1:n.-131+101_-131+102insT
XM_011533939.3:c.-131+231_-131+232insT	XP_011532241.1:n.-131+231_-131+232insT
XM_017006797.2:c.-131+101_-131+102insT	XP_016862286.1:n.-131+101_-131+102insT
XM_017006799.2:c.-131+1471_-131+1472insT	XP_016862288.1:n.-131+1471_-131+1472insT
XR_001740199.2:n.382+1471_382+1472insT
XR_002959545.1:n.382+1471_382+1472insT
NM_018397.5:c.-131+1471_-131+1472insT MANE Select	NP_060867.2:n.-131+1471_-131+1472insT