Canonical Allele Identifier: CA908279065

Gene: CHDH

Linked Data

• dbSNP Id: rs1218922863
• MyVariant Identifiers: chr3:g.53878931_53878932insCG (hg19) ; chr3:g.53844904_53844905insCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844905_53844906insGC , CM000665.2:g.53844905_53844906insGC	GRCh38
NC_000003.11:g.53878932_53878933insGC , CM000665.1:g.53878932_53878933insGC	GRCh37
NC_000003.10:g.53853972_53853973insGC	NCBI36
NG_028042.1:g.6489_6490insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1178_-131+1179insCG MANE Select	ENSP00000319851.5:n.-131+1178_-131+1179insCG
ENST00000315251.10:c.-131+1178_-131+1179insCG	ENSP00000319851.5:n.-131+1178_-131+1179insCG
NM_018397.4:c.-131+1178_-131+1179insCG	NP_060867.2:n.-131+1178_-131+1179insCG
XM_006713250.2:c.-131+1178_-131+1179insCG	XP_006713313.1:n.-131+1178_-131+1179insCG
XM_006713251.2:c.-131+917_-131+918insCG	XP_006713314.1:n.-131+917_-131+918insCG
XM_006713252.2:c.-131+1178_-131+1179insCG	XP_006713315.1:n.-131+1178_-131+1179insCG
XM_011533939.1:c.-193_-192insCG	XP_011532241.1:n.-193_-192insCG
XM_006713250.4:c.-131+1178_-131+1179insCG	XP_006713313.1:n.-131+1178_-131+1179insCG
XM_006713251.4:c.-131+917_-131+918insCG	XP_006713314.1:n.-131+917_-131+918insCG
XM_006713252.4:c.-131+1178_-131+1179insCG	XP_006713315.1:n.-131+1178_-131+1179insCG
XM_011533939.3:c.-193_-192insCG	XP_011532241.1:n.-193_-192insCG
XM_017006799.2:c.-131+1178_-131+1179insCG	XP_016862288.1:n.-131+1178_-131+1179insCG
XR_001740199.2:n.382+1178_382+1179insCG
XR_002959545.1:n.382+1178_382+1179insCG
NM_018397.5:c.-131+1178_-131+1179insCG MANE Select	NP_060867.2:n.-131+1178_-131+1179insCG