Canonical Allele Identifier: CA1365504625

Gene: CHDH

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844702_53844706delinsCAGAT , CM000665.2:g.53844702_53844706delinsCAGAT	GRCh38
NC_000003.11:g.53878729_53878733delinsCAGAT , CM000665.1:g.53878729_53878733delinsCAGAT	GRCh37
NC_000003.10:g.53853769_53853773delinsCAGAT	NCBI36
NG_028042.1:g.6688_6692delinsATCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1377_-131+1381delinsATCTG MANE Select	ENSP00000319851.5:n.-131+1377_-131+1381delinsATCTG
ENST00000315251.10:c.-131+1377_-131+1381delinsATCTG	ENSP00000319851.5:n.-131+1377_-131+1381delinsATCTG
ENST00000467802.1:c.-131+7_-131+11delinsATCTG	ENSP00000419863.1:n.-131+7_-131+11delinsATCTG
NM_018397.4:c.-131+1377_-131+1381delinsATCTG	NP_060867.2:n.-131+1377_-131+1381delinsATCTG
XM_006713250.2:c.-131+1377_-131+1381delinsATCTG	XP_006713313.1:n.-131+1377_-131+1381delinsATCTG
XM_006713251.2:c.-131+1116_-131+1120delinsATCTG	XP_006713314.1:n.-131+1116_-131+1120delinsATCTG
XM_006713252.2:c.-131+1377_-131+1381delinsATCTG	XP_006713315.1:n.-131+1377_-131+1381delinsATCTG
XM_011533938.1:c.-131+7_-131+11delinsATCTG	XP_011532240.1:n.-131+7_-131+11delinsATCTG
XM_011533939.1:c.-131+137_-131+141delinsATCTG	XP_011532241.1:n.-131+137_-131+141delinsATCTG
XM_006713250.4:c.-131+1377_-131+1381delinsATCTG	XP_006713313.1:n.-131+1377_-131+1381delinsATCTG
XM_006713251.4:c.-131+1116_-131+1120delinsATCTG	XP_006713314.1:n.-131+1116_-131+1120delinsATCTG
XM_006713252.4:c.-131+1377_-131+1381delinsATCTG	XP_006713315.1:n.-131+1377_-131+1381delinsATCTG
XM_011533938.3:c.-131+7_-131+11delinsATCTG	XP_011532240.1:n.-131+7_-131+11delinsATCTG
XM_011533939.3:c.-131+137_-131+141delinsATCTG	XP_011532241.1:n.-131+137_-131+141delinsATCTG
XM_017006797.2:c.-131+7_-131+11delinsATCTG	XP_016862286.1:n.-131+7_-131+11delinsATCTG
XM_017006799.2:c.-131+1377_-131+1381delinsATCTG	XP_016862288.1:n.-131+1377_-131+1381delinsATCTG
XR_001740199.2:n.382+1377_382+1381delinsATCTG
XR_002959545.1:n.382+1377_382+1381delinsATCTG
NM_018397.5:c.-131+1377_-131+1381delinsATCTG MANE Select	NP_060867.2:n.-131+1377_-131+1381delinsATCTG