Canonical Allele Identifier: CA1365504549

Gene: CHDH

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844525_53844526delinsTC , CM000665.2:g.53844525_53844526delinsTC	GRCh38
NC_000003.11:g.53878552_53878553delinsTC , CM000665.1:g.53878552_53878553delinsTC	GRCh37
NC_000003.10:g.53853592_53853593delinsTC	NCBI36
NG_028042.1:g.6868_6869delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1557_-131+1558delinsGA MANE Select	ENSP00000319851.5:n.-131+1557_-131+1558delinsGA
ENST00000315251.10:c.-131+1557_-131+1558delinsGA	ENSP00000319851.5:n.-131+1557_-131+1558delinsGA
ENST00000467802.1:c.-131+187_-131+188delinsGA	ENSP00000419863.1:n.-131+187_-131+188delinsGA
ENST00000481668.5:c.-131+56_-131+57delinsGA	ENSP00000418273.1:n.-131+56_-131+57delinsGA
NM_018397.4:c.-131+1557_-131+1558delinsGA	NP_060867.2:n.-131+1557_-131+1558delinsGA
XM_006713250.2:c.-131+1557_-131+1558delinsGA	XP_006713313.1:n.-131+1557_-131+1558delinsGA
XM_006713251.2:c.-131+1296_-131+1297delinsGA	XP_006713314.1:n.-131+1296_-131+1297delinsGA
XM_006713252.2:c.-131+1557_-131+1558delinsGA	XP_006713315.1:n.-131+1557_-131+1558delinsGA
XM_011533938.1:c.-131+187_-131+188delinsGA	XP_011532240.1:n.-131+187_-131+188delinsGA
XM_011533939.1:c.-131+317_-131+318delinsGA	XP_011532241.1:n.-131+317_-131+318delinsGA
XM_006713250.4:c.-131+1557_-131+1558delinsGA	XP_006713313.1:n.-131+1557_-131+1558delinsGA
XM_006713251.4:c.-131+1296_-131+1297delinsGA	XP_006713314.1:n.-131+1296_-131+1297delinsGA
XM_006713252.4:c.-131+1557_-131+1558delinsGA	XP_006713315.1:n.-131+1557_-131+1558delinsGA
XM_011533938.3:c.-131+187_-131+188delinsGA	XP_011532240.1:n.-131+187_-131+188delinsGA
XM_011533939.3:c.-131+317_-131+318delinsGA	XP_011532241.1:n.-131+317_-131+318delinsGA
XM_017006797.2:c.-131+187_-131+188delinsGA	XP_016862286.1:n.-131+187_-131+188delinsGA
XM_017006799.2:c.-131+1557_-131+1558delinsGA	XP_016862288.1:n.-131+1557_-131+1558delinsGA
XR_001740199.2:n.382+1557_382+1558delinsGA
XR_002959545.1:n.382+1557_382+1558delinsGA
NM_018397.5:c.-131+1557_-131+1558delinsGA MANE Select	NP_060867.2:n.-131+1557_-131+1558delinsGA