Canonical Allele Identifier: CA2666148182

Gene: CHDH

Linked Data

• gnomAD v4: 3-53844603-AAGCCTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844604_53844609del , CM000665.2:g.53844604_53844609del	GRCh38
NC_000003.11:g.53878631_53878636del , CM000665.1:g.53878631_53878636del	GRCh37
NC_000003.10:g.53853671_53853676del	NCBI36
NG_028042.1:g.6785_6790del

Transcript Alleles

HGVS	Amino-acid change
ENST00000315251.11:c.-131+1474_-131+1479del MANE Select	ENSP00000319851.5:n.-131+1474_-131+1479de...
ENST00000315251.10:c.-131+1474_-131+1479del	ENSP00000319851.5:n.-131+1474_-131+1479de...
ENST00000467802.1:c.-131+104_-131+109del	ENSP00000419863.1:n.-131+104_-131+109del
ENST00000481668.5:c.-158_-153del	ENSP00000418273.1:n.-158_-153del
NM_018397.4:c.-131+1474_-131+1479del	NP_060867.2:n.-131+1474_-131+1479del
XM_006713250.2:c.-131+1474_-131+1479del	XP_006713313.1:n.-131+1474_-131+1479del
XM_006713251.2:c.-131+1213_-131+1218del	XP_006713314.1:n.-131+1213_-131+1218del
XM_006713252.2:c.-131+1474_-131+1479del	XP_006713315.1:n.-131+1474_-131+1479del
XM_011533938.1:c.-131+104_-131+109del	XP_011532240.1:n.-131+104_-131+109del
XM_011533939.1:c.-131+234_-131+239del	XP_011532241.1:n.-131+234_-131+239del
XM_006713250.4:c.-131+1474_-131+1479del	XP_006713313.1:n.-131+1474_-131+1479del
XM_006713251.4:c.-131+1213_-131+1218del	XP_006713314.1:n.-131+1213_-131+1218del
XM_006713252.4:c.-131+1474_-131+1479del	XP_006713315.1:n.-131+1474_-131+1479del
XM_011533938.3:c.-131+104_-131+109del	XP_011532240.1:n.-131+104_-131+109del
XM_011533939.3:c.-131+234_-131+239del	XP_011532241.1:n.-131+234_-131+239del
XM_017006797.2:c.-131+104_-131+109del	XP_016862286.1:n.-131+104_-131+109del
XM_017006799.2:c.-131+1474_-131+1479del	XP_016862288.1:n.-131+1474_-131+1479del
XR_001740199.2:n.382+1474_382+1479del
XR_002959545.1:n.382+1474_382+1479del
NM_018397.5:c.-131+1474_-131+1479del MANE Select	NP_060867.2:n.-131+1474_-131+1479del