Canonical Allele Identifier: CA1365504529

Gene: CHDH

Linked Data

• dbSNP Id: rs1698786957

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844470_53844481del , CM000665.2:g.53844470_53844481del	GRCh38
NC_000003.11:g.53878497_53878508del , CM000665.1:g.53878497_53878508del	GRCh37
NC_000003.10:g.53853537_53853548del	NCBI36
NG_028042.1:g.6917_6928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1606_-131+1617del MANE Select	ENSP00000319851.5:n.-131+1606_-131+1617del
ENST00000315251.10:c.-131+1606_-131+1617del	ENSP00000319851.5:n.-131+1606_-131+1617del
ENST00000467802.1:c.-131+236_-131+247del	ENSP00000419863.1:n.-131+236_-131+247del
ENST00000481668.5:c.-131+105_-131+116del	ENSP00000418273.1:n.-131+105_-131+116del
NM_018397.4:c.-131+1606_-131+1617del	NP_060867.2:n.-131+1606_-131+1617del
XM_006713250.2:c.-131+1606_-131+1617del	XP_006713313.1:n.-131+1606_-131+1617del
XM_006713251.2:c.-131+1345_-131+1356del	XP_006713314.1:n.-131+1345_-131+1356del
XM_006713252.2:c.-131+1606_-131+1617del	XP_006713315.1:n.-131+1606_-131+1617del
XM_011533938.1:c.-131+236_-131+247del	XP_011532240.1:n.-131+236_-131+247del
XM_011533939.1:c.-131+366_-131+377del	XP_011532241.1:n.-131+366_-131+377del
XM_006713250.4:c.-131+1606_-131+1617del	XP_006713313.1:n.-131+1606_-131+1617del
XM_006713251.4:c.-131+1345_-131+1356del	XP_006713314.1:n.-131+1345_-131+1356del
XM_006713252.4:c.-131+1606_-131+1617del	XP_006713315.1:n.-131+1606_-131+1617del
XM_011533938.3:c.-131+236_-131+247del	XP_011532240.1:n.-131+236_-131+247del
XM_011533939.3:c.-131+366_-131+377del	XP_011532241.1:n.-131+366_-131+377del
XM_017006797.2:c.-131+236_-131+247del	XP_016862286.1:n.-131+236_-131+247del
XM_017006799.2:c.-131+1606_-131+1617del	XP_016862288.1:n.-131+1606_-131+1617del
XR_001740199.2:n.382+1606_382+1617del
XR_002959545.1:n.382+1606_382+1617del
NM_018397.5:c.-131+1606_-131+1617del MANE Select	NP_060867.2:n.-131+1606_-131+1617del