Canonical Allele Identifier: CA2666148061

Gene: CHDH

Linked Data

• gnomAD v4: 3-53844518-CCTCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844528_53844532del , CM000665.2:g.53844528_53844532del	GRCh38
NC_000003.11:g.53878555_53878559del , CM000665.1:g.53878555_53878559del	GRCh37
NC_000003.10:g.53853595_53853599del	NCBI36
NG_028042.1:g.6871_6875del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1560_-131+1564del MANE Select	ENSP00000319851.5:n.-131+1560_-131+1564del
ENST00000315251.10:c.-131+1560_-131+1564del	ENSP00000319851.5:n.-131+1560_-131+1564del
ENST00000467802.1:c.-131+190_-131+194del	ENSP00000419863.1:n.-131+190_-131+194del
ENST00000481668.5:c.-131+59_-131+63del	ENSP00000418273.1:n.-131+59_-131+63del
NM_018397.4:c.-131+1560_-131+1564del	NP_060867.2:n.-131+1560_-131+1564del
XM_006713250.2:c.-131+1560_-131+1564del	XP_006713313.1:n.-131+1560_-131+1564del
XM_006713251.2:c.-131+1299_-131+1303del	XP_006713314.1:n.-131+1299_-131+1303del
XM_006713252.2:c.-131+1560_-131+1564del	XP_006713315.1:n.-131+1560_-131+1564del
XM_011533938.1:c.-131+190_-131+194del	XP_011532240.1:n.-131+190_-131+194del
XM_011533939.1:c.-131+320_-131+324del	XP_011532241.1:n.-131+320_-131+324del
XM_006713250.4:c.-131+1560_-131+1564del	XP_006713313.1:n.-131+1560_-131+1564del
XM_006713251.4:c.-131+1299_-131+1303del	XP_006713314.1:n.-131+1299_-131+1303del
XM_006713252.4:c.-131+1560_-131+1564del	XP_006713315.1:n.-131+1560_-131+1564del
XM_011533938.3:c.-131+190_-131+194del	XP_011532240.1:n.-131+190_-131+194del
XM_011533939.3:c.-131+320_-131+324del	XP_011532241.1:n.-131+320_-131+324del
XM_017006797.2:c.-131+190_-131+194del	XP_016862286.1:n.-131+190_-131+194del
XM_017006799.2:c.-131+1560_-131+1564del	XP_016862288.1:n.-131+1560_-131+1564del
XR_001740199.2:n.382+1560_382+1564del
XR_002959545.1:n.382+1560_382+1564del
NM_018397.5:c.-131+1560_-131+1564del MANE Select	NP_060867.2:n.-131+1560_-131+1564del