Canonical Allele Identifier: CA2466788280

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776163_154776165delinsCTT , CM000685.2:g.154776163_154776165delinsCTT	GRCh38
NC_000023.10:g.154004438_154004440delinsCTT , CM000685.1:g.154004438_154004440delinsCTT	GRCh37
NC_000023.9:g.153657632_153657634delinsCTT	NCBI36
NG_009780.1:g.18408_18410delinsCTT , LRG_55:g.18408_18410delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*135-24_*135-22delinsCTT	ENSP00000400542.2:n.*135-24_*135-22delinsCTT
ENST00000426673.6:c.*781-24_*781-22delinsCTT	ENSP00000407253.3:n.*781-24_*781-22delinsCTT
ENST00000484317.6:n.1613-24_1613-22delinsCTT
ENST00000492372.2:n.277-24_277-22delinsCTT
ENST00000696575.1:c.1324-24_1324-22delinsCTT	ENSP00000512730.1:n.1324-24_1324-22delinsCTT
ENST00000696577.1:c.1339-24_1339-22delinsCTT	ENSP00000512731.1:n.1339-24_1339-22delinsCTT
ENST00000696578.1:c.*291-24_*291-22delinsCTT	ENSP00000512732.1:n.*291-24_*291-22delinsCTT
ENST00000696579.1:n.2330_2332delinsCTT
ENST00000696580.1:c.1252-24_1252-22delinsCTT	ENSP00000512733.1:n.1252-24_1252-22delinsCTT
ENST00000696581.1:c.*1313-24_*1313-22delinsCTT	ENSP00000512734.1:n.*1313-24_*1313-22delinsCTT
ENST00000696582.1:c.*545-24_*545-22delinsCTT	ENSP00000512735.1:n.*545-24_*545-22delinsCTT
ENST00000696583.1:c.1300-24_1300-22delinsCTT	ENSP00000512736.1:n.1300-24_1300-22delinsCTT
ENST00000696584.1:n.1863-24_1863-22delinsCTT
ENST00000696585.1:n.1982-24_1982-22delinsCTT
ENST00000696586.1:n.1756-24_1756-22delinsCTT
ENST00000696587.1:c.1219-24_1219-22delinsCTT	ENSP00000512737.1:n.1219-24_1219-22delinsCTT
ENST00000696588.1:c.730-24_730-22delinsCTT	ENSP00000513251.1:n.730-24_730-22delinsCTT
ENST00000696589.1:n.1114-24_1114-22delinsCTT
ENST00000696590.1:n.2341_2343delinsCTT
ENST00000696591.1:n.688-24_688-22delinsCTT
ENST00000696592.1:n.3596_3598delinsCTT
ENST00000696627.1:c.*165-24_*165-22delinsCTT	ENSP00000512764.1:n.*165-24_*165-22delinsCTT
ENST00000696628.1:c.1339-24_1339-22delinsCTT	ENSP00000512765.1:n.1339-24_1339-22delinsCTT
ENST00000369550.10:c.1339-24_1339-22delinsCTT MANE Select	ENSP00000358563.5:n.1339-24_1339-22delinsCTT
ENST00000369550.9:c.1339-24_1339-22delinsCTT	ENSP00000358563.5:n.1339-24_1339-22delinsCTT
ENST00000412124.5:c.597-24_597-22delinsCTT
ENST00000426673.5:c.758-24_758-22delinsCTT
ENST00000475966.1:n.828-24_828-22delinsCTT
ENST00000492372.1:n.156-24_156-22delinsCTT
ENST00000620277.4:c.*565-24_*565-22delinsCTT	ENSP00000478387.1:n.*565-24_*565-22delinsCTT
NM_001142463.2:c.1324-24_1324-22delinsCTT	NP_001135935.1:n.1324-24_1324-22delinsCTT
NM_001288747.1:c.*565-24_*565-22delinsCTT	NP_001275676.1:n.*565-24_*565-22delinsCTT
NM_001363.4:c.1339-24_1339-22delinsCTT	NP_001354.1:n.1339-24_1339-22delinsCTT
NR_110021.1:n.2040-24_2040-22delinsCTT
NR_110022.1:n.2159-24_2159-22delinsCTT
NR_110023.1:n.1933-24_1933-22delinsCTT
NM_001363.5:c.1339-24_1339-22delinsCTT MANE Select	NP_001354.1:n.1339-24_1339-22delinsCTT
NM_001142463.3:c.1324-24_1324-22delinsCTT	NP_001135935.1:n.1324-24_1324-22delinsCTT
NR_110021.2:n.1918-24_1918-22delinsCTT
NR_110022.2:n.2037-24_2037-22delinsCTT
NR_110023.2:n.1811-24_1811-22delinsCTT
NM_001288747.2:c.*565-24_*565-22delinsCTT	NP_001275676.1:n.*565-24_*565-22delinsCTT