Canonical Allele Identifier: CA1048077001

Gene: CHDH

Linked Data

• dbSNP Id: rs1698795044
• gnomAD v3: 3-53844687-CCCA-C
• gnomAD v4: 3-53844687-CCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844689_53844691del , CM000665.2:g.53844689_53844691del	GRCh38
NC_000003.11:g.53878716_53878718del , CM000665.1:g.53878716_53878718del	GRCh37
NC_000003.10:g.53853756_53853758del	NCBI36
NG_028042.1:g.6704_6706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1393_-131+1395del MANE Select	ENSP00000319851.5:n.-131+1393_-131+1395del
ENST00000315251.10:c.-131+1393_-131+1395del	ENSP00000319851.5:n.-131+1393_-131+1395del
ENST00000467802.1:c.-131+23_-131+25del	ENSP00000419863.1:n.-131+23_-131+25del
NM_018397.4:c.-131+1393_-131+1395del	NP_060867.2:n.-131+1393_-131+1395del
XM_006713250.2:c.-131+1393_-131+1395del	XP_006713313.1:n.-131+1393_-131+1395del
XM_006713251.2:c.-131+1132_-131+1134del	XP_006713314.1:n.-131+1132_-131+1134del
XM_006713252.2:c.-131+1393_-131+1395del	XP_006713315.1:n.-131+1393_-131+1395del
XM_011533938.1:c.-131+23_-131+25del	XP_011532240.1:n.-131+23_-131+25del
XM_011533939.1:c.-131+153_-131+155del	XP_011532241.1:n.-131+153_-131+155del
XM_006713250.4:c.-131+1393_-131+1395del	XP_006713313.1:n.-131+1393_-131+1395del
XM_006713251.4:c.-131+1132_-131+1134del	XP_006713314.1:n.-131+1132_-131+1134del
XM_006713252.4:c.-131+1393_-131+1395del	XP_006713315.1:n.-131+1393_-131+1395del
XM_011533938.3:c.-131+23_-131+25del	XP_011532240.1:n.-131+23_-131+25del
XM_011533939.3:c.-131+153_-131+155del	XP_011532241.1:n.-131+153_-131+155del
XM_017006797.2:c.-131+23_-131+25del	XP_016862286.1:n.-131+23_-131+25del
XM_017006799.2:c.-131+1393_-131+1395del	XP_016862288.1:n.-131+1393_-131+1395del
XR_001740199.2:n.382+1393_382+1395del
XR_002959545.1:n.382+1393_382+1395del
NM_018397.5:c.-131+1393_-131+1395del MANE Select	NP_060867.2:n.-131+1393_-131+1395del