Canonical Allele Identifier: CA920450473

Gene: DKC1

Linked Data

• dbSNP Id: rs1603429624

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773243delinsAG , CM000685.2:g.154773243delinsAG	GRCh38
NC_000023.10:g.154001518delinsAG , CM000685.1:g.154001518delinsAG	GRCh37
NC_000023.9:g.153654712delinsAG	NCBI36
NG_009780.1:g.15488delinsAG , LRG_55:g.15488delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1029delinsAG	ENSP00000400542.2:p.Pro344AlafsTer?
ENST00000426673.6:c.*532delinsAG	ENSP00000407253.3:n.*532delinsAG
ENST00000484317.6:n.934delinsAG
ENST00000696575.1:c.1149delinsAG	ENSP00000512730.1:p.Pro384AlafsTer?
ENST00000696577.1:c.1149delinsAG	ENSP00000512731.1:p.Pro384AlafsTer?
ENST00000696578.1:c.*101delinsAG	ENSP00000512732.1:n.*101delinsAG
ENST00000696579.1:n.1251delinsAG
ENST00000696580.1:c.1062delinsAG	ENSP00000512733.1:p.Pro355AlafsTer?
ENST00000696581.1:c.*1123delinsAG	ENSP00000512734.1:n.*1123delinsAG
ENST00000696582.1:c.*355delinsAG	ENSP00000512735.1:n.*355delinsAG
ENST00000696583.1:c.1110delinsAG	ENSP00000512736.1:p.Pro371AlafsTer?
ENST00000696584.1:n.1673delinsAG
ENST00000696585.1:n.1792delinsAG
ENST00000696586.1:n.1566delinsAG
ENST00000696587.1:c.1029delinsAG	ENSP00000512737.1:p.Pro344AlafsTer?
ENST00000696588.1:c.540delinsAG	ENSP00000513251.1:p.Pro181AlafsTer?
ENST00000696589.1:n.924delinsAG
ENST00000696590.1:n.773delinsAG
ENST00000696591.1:n.498delinsAG
ENST00000696592.1:n.2028delinsAG
ENST00000696627.1:c.1149delinsAG	ENSP00000512764.1:p.Pro384AlafsTer?
ENST00000696628.1:c.1149delinsAG	ENSP00000512765.1:p.Pro384AlafsTer?
ENST00000369550.10:c.1149delinsAG MANE Select	ENSP00000358563.5:p.Pro384AlafsTer?
ENST00000369550.9:c.1149delinsAG	ENSP00000358563.5:p.Pro384AlafsTer?
ENST00000412124.5:c.407delinsAG
ENST00000426673.5:c.509delinsAG
ENST00000475966.1:n.638delinsAG
ENST00000481062.1:n.100delinsAG
ENST00000620277.4:c.1149delinsAG	ENSP00000478387.1:p.Pro384AlafsTer?
NM_001142463.2:c.1149delinsAG	NP_001135935.1:p.Pro384AlafsTer?
NM_001288747.1:c.1149delinsAG	NP_001275676.1:p.Pro384AlafsTer?
NM_001363.4:c.1149delinsAG	NP_001354.1:p.Pro384AlafsTer?
NR_110021.1:n.1850delinsAG
NR_110022.1:n.1969delinsAG
NR_110023.1:n.1743delinsAG
NM_001363.5:c.1149delinsAG MANE Select	NP_001354.1:p.Pro384AlafsTer?
NM_001142463.3:c.1149delinsAG	NP_001135935.1:p.Pro384AlafsTer?
NR_110021.2:n.1728delinsAG
NR_110022.2:n.1847delinsAG
NR_110023.2:n.1621delinsAG
NM_001288747.2:c.1149delinsAG	NP_001275676.1:p.Pro384AlafsTer?