Canonical Allele Identifier: CA908279006

Gene: CHDH

Linked Data

• dbSNP Id: rs1283985516
• gnomAD v3: 3-53844706-TACTC-T
• gnomAD v4: 3-53844706-TACTC-T
• MyVariant Identifiers: chr3:g.53878734_53878737del (hg19) ; chr3:g.53844707_53844710del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844709_53844712del , CM000665.2:g.53844709_53844712del	GRCh38
NC_000003.11:g.53878736_53878739del , CM000665.1:g.53878736_53878739del	GRCh37
NC_000003.10:g.53853776_53853779del	NCBI36
NG_028042.1:g.6684_6687del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1373_-131+1376del MANE Select	ENSP00000319851.5:n.-131+1373_-131+1376del
ENST00000315251.10:c.-131+1373_-131+1376del	ENSP00000319851.5:n.-131+1373_-131+1376del
ENST00000467802.1:c.-131+3_-131+6del	ENSP00000419863.1:n.-131+3_-131+6del
NM_018397.4:c.-131+1373_-131+1376del	NP_060867.2:n.-131+1373_-131+1376del
XM_006713250.2:c.-131+1373_-131+1376del	XP_006713313.1:n.-131+1373_-131+1376del
XM_006713251.2:c.-131+1112_-131+1115del	XP_006713314.1:n.-131+1112_-131+1115del
XM_006713252.2:c.-131+1373_-131+1376del	XP_006713315.1:n.-131+1373_-131+1376del
XM_011533938.1:c.-131+3_-131+6del	XP_011532240.1:n.-131+3_-131+6del
XM_011533939.1:c.-131+133_-131+136del	XP_011532241.1:n.-131+133_-131+136del
XM_006713250.4:c.-131+1373_-131+1376del	XP_006713313.1:n.-131+1373_-131+1376del
XM_006713251.4:c.-131+1112_-131+1115del	XP_006713314.1:n.-131+1112_-131+1115del
XM_006713252.4:c.-131+1373_-131+1376del	XP_006713315.1:n.-131+1373_-131+1376del
XM_011533938.3:c.-131+3_-131+6del	XP_011532240.1:n.-131+3_-131+6del
XM_011533939.3:c.-131+133_-131+136del	XP_011532241.1:n.-131+133_-131+136del
XM_017006797.2:c.-131+3_-131+6del	XP_016862286.1:n.-131+3_-131+6del
XM_017006799.2:c.-131+1373_-131+1376del	XP_016862288.1:n.-131+1373_-131+1376del
XR_001740199.2:n.382+1373_382+1376del
XR_002959545.1:n.382+1373_382+1376del
NM_018397.5:c.-131+1373_-131+1376del MANE Select	NP_060867.2:n.-131+1373_-131+1376del