Canonical Allele Identifier: CA1048077101

Gene: CHDH

Linked Data

• dbSNP Id: rs1698806745
• gnomAD v3: 3-53844911-G-GCA
• gnomAD v4: 3-53844911-G-GCA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844911_53844912insCA , CM000665.2:g.53844911_53844912insCA	GRCh38
NC_000003.11:g.53878938_53878939insCA , CM000665.1:g.53878938_53878939insCA	GRCh37
NC_000003.10:g.53853978_53853979insCA	NCBI36
NG_028042.1:g.6482_6483insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1171_-131+1172insTG MANE Select	ENSP00000319851.5:n.-131+1171_-131+1172insTG
ENST00000315251.10:c.-131+1171_-131+1172insTG	ENSP00000319851.5:n.-131+1171_-131+1172insTG
NM_018397.4:c.-131+1171_-131+1172insTG	NP_060867.2:n.-131+1171_-131+1172insTG
XM_006713250.2:c.-131+1171_-131+1172insTG	XP_006713313.1:n.-131+1171_-131+1172insTG
XM_006713251.2:c.-131+910_-131+911insTG	XP_006713314.1:n.-131+910_-131+911insTG
XM_006713252.2:c.-131+1171_-131+1172insTG	XP_006713315.1:n.-131+1171_-131+1172insTG
XM_011533939.1:c.-200_-199insTG	XP_011532241.1:n.-200_-199insTG
XM_006713250.4:c.-131+1171_-131+1172insTG	XP_006713313.1:n.-131+1171_-131+1172insTG
XM_006713251.4:c.-131+910_-131+911insTG	XP_006713314.1:n.-131+910_-131+911insTG
XM_006713252.4:c.-131+1171_-131+1172insTG	XP_006713315.1:n.-131+1171_-131+1172insTG
XM_011533939.3:c.-200_-199insTG	XP_011532241.1:n.-200_-199insTG
XM_017006799.2:c.-131+1171_-131+1172insTG	XP_016862288.1:n.-131+1171_-131+1172insTG
XR_001740199.2:n.382+1171_382+1172insTG
XR_002959545.1:n.382+1171_382+1172insTG
NM_018397.5:c.-131+1171_-131+1172insTG MANE Select	NP_060867.2:n.-131+1171_-131+1172insTG