Canonical Allele Identifier: CA1365504558

Gene: CHDH

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844540_53844542delinsCCT , CM000665.2:g.53844540_53844542delinsCCT	GRCh38
NC_000003.11:g.53878567_53878569delinsCCT , CM000665.1:g.53878567_53878569delinsCCT	GRCh37
NC_000003.10:g.53853607_53853609delinsCCT	NCBI36
NG_028042.1:g.6852_6854delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1541_-131+1543delinsAGG MANE Select	ENSP00000319851.5:n.-131+1541_-131+1543delinsAGG
ENST00000315251.10:c.-131+1541_-131+1543delinsAGG	ENSP00000319851.5:n.-131+1541_-131+1543delinsAGG
ENST00000467802.1:c.-131+171_-131+173delinsAGG	ENSP00000419863.1:n.-131+171_-131+173delinsAGG
ENST00000481668.5:c.-131+40_-131+42delinsAGG	ENSP00000418273.1:n.-131+40_-131+42delinsAGG
NM_018397.4:c.-131+1541_-131+1543delinsAGG	NP_060867.2:n.-131+1541_-131+1543delinsAGG
XM_006713250.2:c.-131+1541_-131+1543delinsAGG	XP_006713313.1:n.-131+1541_-131+1543delinsAGG
XM_006713251.2:c.-131+1280_-131+1282delinsAGG	XP_006713314.1:n.-131+1280_-131+1282delinsAGG
XM_006713252.2:c.-131+1541_-131+1543delinsAGG	XP_006713315.1:n.-131+1541_-131+1543delinsAGG
XM_011533938.1:c.-131+171_-131+173delinsAGG	XP_011532240.1:n.-131+171_-131+173delinsAGG
XM_011533939.1:c.-131+301_-131+303delinsAGG	XP_011532241.1:n.-131+301_-131+303delinsAGG
XM_006713250.4:c.-131+1541_-131+1543delinsAGG	XP_006713313.1:n.-131+1541_-131+1543delinsAGG
XM_006713251.4:c.-131+1280_-131+1282delinsAGG	XP_006713314.1:n.-131+1280_-131+1282delinsAGG
XM_006713252.4:c.-131+1541_-131+1543delinsAGG	XP_006713315.1:n.-131+1541_-131+1543delinsAGG
XM_011533938.3:c.-131+171_-131+173delinsAGG	XP_011532240.1:n.-131+171_-131+173delinsAGG
XM_011533939.3:c.-131+301_-131+303delinsAGG	XP_011532241.1:n.-131+301_-131+303delinsAGG
XM_017006797.2:c.-131+171_-131+173delinsAGG	XP_016862286.1:n.-131+171_-131+173delinsAGG
XM_017006799.2:c.-131+1541_-131+1543delinsAGG	XP_016862288.1:n.-131+1541_-131+1543delinsAGG
XR_001740199.2:n.382+1541_382+1543delinsAGG
XR_002959545.1:n.382+1541_382+1543delinsAGG
NM_018397.5:c.-131+1541_-131+1543delinsAGG MANE Select	NP_060867.2:n.-131+1541_-131+1543delinsAGG