Canonical Allele Identifier: CA1365504373

Gene: CHDH

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844148_53844149delinsCA , CM000665.2:g.53844148_53844149delinsCA	GRCh38
NC_000003.11:g.53878175_53878176delinsCA , CM000665.1:g.53878175_53878176delinsCA	GRCh37
NC_000003.10:g.53853215_53853216delinsCA	NCBI36
NG_028042.1:g.7245_7246delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1934_-131+1935delinsTG MANE Select	ENSP00000319851.5:n.-131+1934_-131+1935delinsTG
ENST00000315251.10:c.-131+1934_-131+1935delinsTG	ENSP00000319851.5:n.-131+1934_-131+1935delinsTG
ENST00000467802.1:c.-131+564_-131+565delinsTG	ENSP00000419863.1:n.-131+564_-131+565delinsTG
ENST00000481668.5:c.-131+433_-131+434delinsTG	ENSP00000418273.1:n.-131+433_-131+434delinsTG
NM_018397.4:c.-131+1934_-131+1935delinsTG	NP_060867.2:n.-131+1934_-131+1935delinsTG
XM_006713250.2:c.-131+1934_-131+1935delinsTG	XP_006713313.1:n.-131+1934_-131+1935delinsTG
XM_006713251.2:c.-131+1673_-131+1674delinsTG	XP_006713314.1:n.-131+1673_-131+1674delinsTG
XM_006713252.2:c.-131+1934_-131+1935delinsTG	XP_006713315.1:n.-131+1934_-131+1935delinsTG
XM_011533938.1:c.-131+564_-131+565delinsTG	XP_011532240.1:n.-131+564_-131+565delinsTG
XM_011533939.1:c.-131+694_-131+695delinsTG	XP_011532241.1:n.-131+694_-131+695delinsTG
XM_006713250.4:c.-131+1934_-131+1935delinsTG	XP_006713313.1:n.-131+1934_-131+1935delinsTG
XM_006713251.4:c.-131+1673_-131+1674delinsTG	XP_006713314.1:n.-131+1673_-131+1674delinsTG
XM_006713252.4:c.-131+1934_-131+1935delinsTG	XP_006713315.1:n.-131+1934_-131+1935delinsTG
XM_011533938.3:c.-131+564_-131+565delinsTG	XP_011532240.1:n.-131+564_-131+565delinsTG
XM_011533939.3:c.-131+694_-131+695delinsTG	XP_011532241.1:n.-131+694_-131+695delinsTG
XM_017006797.2:c.-131+564_-131+565delinsTG	XP_016862286.1:n.-131+564_-131+565delinsTG
XM_017006799.2:c.-131+1934_-131+1935delinsTG	XP_016862288.1:n.-131+1934_-131+1935delinsTG
XR_001740199.2:n.382+1934_382+1935delinsTG
XR_002959545.1:n.382+1934_382+1935delinsTG
NM_018397.5:c.-131+1934_-131+1935delinsTG MANE Select	NP_060867.2:n.-131+1934_-131+1935delinsTG