Canonical Allele Identifier: CA2666148195

Gene: CHDH

Linked Data

• gnomAD v4: 3-53844612-T-TAC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844612_53844613insAC , CM000665.2:g.53844612_53844613insAC	GRCh38
NC_000003.11:g.53878639_53878640insAC , CM000665.1:g.53878639_53878640insAC	GRCh37
NC_000003.10:g.53853679_53853680insAC	NCBI36
NG_028042.1:g.6781_6782insGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000315251.11:c.-131+1470_-131+1471insGT MANE Select	ENSP00000319851.5:n.-131+1470_-131+1471in...
ENST00000315251.10:c.-131+1470_-131+1471insGT	ENSP00000319851.5:n.-131+1470_-131+1471in...
ENST00000467802.1:c.-131+100_-131+101insGT	ENSP00000419863.1:n.-131+100_-131+101insG...
ENST00000481668.5:c.-162_-161insGT	ENSP00000418273.1:n.-162_-161insGT
NM_018397.4:c.-131+1470_-131+1471insGT	NP_060867.2:n.-131+1470_-131+1471insGT
XM_006713250.2:c.-131+1470_-131+1471insGT	XP_006713313.1:n.-131+1470_-131+1471insGT...
XM_006713251.2:c.-131+1209_-131+1210insGT	XP_006713314.1:n.-131+1209_-131+1210insGT...
XM_006713252.2:c.-131+1470_-131+1471insGT	XP_006713315.1:n.-131+1470_-131+1471insGT...
XM_011533938.1:c.-131+100_-131+101insGT	XP_011532240.1:n.-131+100_-131+101insGT
XM_011533939.1:c.-131+230_-131+231insGT	XP_011532241.1:n.-131+230_-131+231insGT
XM_006713250.4:c.-131+1470_-131+1471insGT	XP_006713313.1:n.-131+1470_-131+1471insGT...
XM_006713251.4:c.-131+1209_-131+1210insGT	XP_006713314.1:n.-131+1209_-131+1210insGT...
XM_006713252.4:c.-131+1470_-131+1471insGT	XP_006713315.1:n.-131+1470_-131+1471insGT...
XM_011533938.3:c.-131+100_-131+101insGT	XP_011532240.1:n.-131+100_-131+101insGT
XM_011533939.3:c.-131+230_-131+231insGT	XP_011532241.1:n.-131+230_-131+231insGT
XM_017006797.2:c.-131+100_-131+101insGT	XP_016862286.1:n.-131+100_-131+101insGT
XM_017006799.2:c.-131+1470_-131+1471insGT	XP_016862288.1:n.-131+1470_-131+1471insGT...
XR_001740199.2:n.382+1470_382+1471insGT
XR_002959545.1:n.382+1470_382+1471insGT
NM_018397.5:c.-131+1470_-131+1471insGT MANE Select	NP_060867.2:n.-131+1470_-131+1471insGT