Canonical Allele Identifier: CA1890966335

Gene: DHTKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.12107873_12107896delinsCGTAGAGCTCTTACTCCCCACGTG , CM000672.2:g.12107873_12107896delinsCGTAGAGCTCTTACTCCCCACGTG	GRCh38
NC_000010.10:g.12149872_12149895delinsCGTAGAGCTCTTACTCCCCACGTG , CM000672.1:g.12149872_12149895delinsCGTAGAGCTCTTACTCCCCACGTG	GRCh37
NC_000010.9:g.12189878_12189901delinsCGTAGAGCTCTTACTCCCCACGTG	NCBI36
NG_033248.1:g.43957_43980delinsCGTAGAGCTCTTACTCCCCACGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263035.9:c.2048-36_2048-13delinsCGTAGAGCTCTTACTCCCCACGTG MANE Select	ENSP00000263035.4:n.2048-36_2048-13delinsCGTAGAGCTCTTACTCCCCA...
ENST00000263035.8:c.2048-36_2048-13delinsCGTAGAGCTCTTACTCCCCACGTG	ENSP00000263035.4:n.2048-36_2048-13delinsCGTAGAGCTCTTACTCCCCA...
ENST00000448829.1:c.551-36_551-13delinsCGTAGAGCTCTTACTCCCCACGTG
NM_018706.6:c.2048-36_2048-13delinsCGTAGAGCTCTTACTCCCCACGTG	NP_061176.3:n.2048-36_2048-13delinsCGTAGAGCTCTTACTCCCCACGTG
NM_018706.7:c.2048-36_2048-13delinsCGTAGAGCTCTTACTCCCCACGTG MANE Select	NP_061176.4:n.2048-36_2048-13delinsCGTAGAGCTCTTACTCCCCACGTG