Canonical Allele Identifier: CA908278960

Gene: CHDH

Linked Data

• dbSNP Id: rs1276122808
• gnomAD v3: 3-53844540-CCT-C
• gnomAD v4: 3-53844540-CCT-C
• MyVariant Identifiers: chr3:g.53878568_53878569del (hg19) ; chr3:g.53844541_53844542del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844541_53844542del , CM000665.2:g.53844541_53844542del	GRCh38
NC_000003.11:g.53878568_53878569del , CM000665.1:g.53878568_53878569del	GRCh37
NC_000003.10:g.53853608_53853609del	NCBI36
NG_028042.1:g.6852_6853del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1541_-131+1542del MANE Select	ENSP00000319851.5:n.-131+1541_-131+1542del
ENST00000315251.10:c.-131+1541_-131+1542del	ENSP00000319851.5:n.-131+1541_-131+1542del
ENST00000467802.1:c.-131+171_-131+172del	ENSP00000419863.1:n.-131+171_-131+172del
ENST00000481668.5:c.-131+40_-131+41del	ENSP00000418273.1:n.-131+40_-131+41del
NM_018397.4:c.-131+1541_-131+1542del	NP_060867.2:n.-131+1541_-131+1542del
XM_006713250.2:c.-131+1541_-131+1542del	XP_006713313.1:n.-131+1541_-131+1542del
XM_006713251.2:c.-131+1280_-131+1281del	XP_006713314.1:n.-131+1280_-131+1281del
XM_006713252.2:c.-131+1541_-131+1542del	XP_006713315.1:n.-131+1541_-131+1542del
XM_011533938.1:c.-131+171_-131+172del	XP_011532240.1:n.-131+171_-131+172del
XM_011533939.1:c.-131+301_-131+302del	XP_011532241.1:n.-131+301_-131+302del
XM_006713250.4:c.-131+1541_-131+1542del	XP_006713313.1:n.-131+1541_-131+1542del
XM_006713251.4:c.-131+1280_-131+1281del	XP_006713314.1:n.-131+1280_-131+1281del
XM_006713252.4:c.-131+1541_-131+1542del	XP_006713315.1:n.-131+1541_-131+1542del
XM_011533938.3:c.-131+171_-131+172del	XP_011532240.1:n.-131+171_-131+172del
XM_011533939.3:c.-131+301_-131+302del	XP_011532241.1:n.-131+301_-131+302del
XM_017006797.2:c.-131+171_-131+172del	XP_016862286.1:n.-131+171_-131+172del
XM_017006799.2:c.-131+1541_-131+1542del	XP_016862288.1:n.-131+1541_-131+1542del
XR_001740199.2:n.382+1541_382+1542del
XR_002959545.1:n.382+1541_382+1542del
NM_018397.5:c.-131+1541_-131+1542del MANE Select	NP_060867.2:n.-131+1541_-131+1542del