Canonical Allele Identifier: CA2695161389

Gene: DKC1

Linked Data

• gnomAD v4: X-154773284-C-CAT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773284_154773285insAT , CM000685.2:g.154773284_154773285insAT	GRCh38
NC_000023.10:g.154001559_154001560insAT , CM000685.1:g.154001559_154001560insAT	GRCh37
NC_000023.9:g.153654753_153654754insAT	NCBI36
NG_009780.1:g.15529_15530insAT , LRG_55:g.15529_15530insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1035+35_1035+36insAT	ENSP00000400542.2:n.1035+35_1035+36insAT
ENST00000426673.6:c.*538+35_*538+36insAT	ENSP00000407253.3:n.*538+35_*538+36insAT
ENST00000484317.6:n.940+35_940+36insAT
ENST00000696575.1:c.1155+35_1155+36insAT	ENSP00000512730.1:n.1155+35_1155+36insAT
ENST00000696577.1:c.1155+35_1155+36insAT	ENSP00000512731.1:n.1155+35_1155+36insAT
ENST00000696578.1:c.*107+35_*107+36insAT	ENSP00000512732.1:n.*107+35_*107+36insAT
ENST00000696579.1:n.1257+35_1257+36insAT
ENST00000696580.1:c.1068+35_1068+36insAT	ENSP00000512733.1:n.1068+35_1068+36insAT
ENST00000696581.1:c.*1129+35_*1129+36insAT	ENSP00000512734.1:n.*1129+35_*1129+36insAT
ENST00000696582.1:c.*361+35_*361+36insAT	ENSP00000512735.1:n.*361+35_*361+36insAT
ENST00000696583.1:c.1116+35_1116+36insAT	ENSP00000512736.1:n.1116+35_1116+36insAT
ENST00000696584.1:n.1679+35_1679+36insAT
ENST00000696585.1:n.1798+35_1798+36insAT
ENST00000696586.1:n.1572+35_1572+36insAT
ENST00000696587.1:c.1035+35_1035+36insAT	ENSP00000512737.1:n.1035+35_1035+36insAT
ENST00000696588.1:c.546+35_546+36insAT	ENSP00000513251.1:n.546+35_546+36insAT
ENST00000696589.1:n.930+35_930+36insAT
ENST00000696590.1:n.779+35_779+36insAT
ENST00000696591.1:n.504+35_504+36insAT
ENST00000696592.1:n.2034+35_2034+36insAT
ENST00000696627.1:c.1159+31_1159+32insAT	ENSP00000512764.1:n.1159+31_1159+32insAT
ENST00000696628.1:c.1155+35_1155+36insAT	ENSP00000512765.1:n.1155+35_1155+36insAT
ENST00000369550.10:c.1155+35_1155+36insAT MANE Select	ENSP00000358563.5:n.1155+35_1155+36insAT
ENST00000369550.9:c.1155+35_1155+36insAT	ENSP00000358563.5:n.1155+35_1155+36insAT
ENST00000412124.5:c.413+35_413+36insAT
ENST00000426673.5:c.515+35_515+36insAT
ENST00000475966.1:n.644+35_644+36insAT
ENST00000481062.1:n.106+35_106+36insAT
ENST00000620277.4:c.1155+35_1155+36insAT	ENSP00000478387.1:n.1155+35_1155+36insAT
NM_001142463.2:c.1155+35_1155+36insAT	NP_001135935.1:n.1155+35_1155+36insAT
NM_001288747.1:c.1155+35_1155+36insAT	NP_001275676.1:n.1155+35_1155+36insAT
NM_001363.4:c.1155+35_1155+36insAT	NP_001354.1:n.1155+35_1155+36insAT
NR_110021.1:n.1856+35_1856+36insAT
NR_110022.1:n.1975+35_1975+36insAT
NR_110023.1:n.1749+35_1749+36insAT
NM_001363.5:c.1155+35_1155+36insAT MANE Select	NP_001354.1:n.1155+35_1155+36insAT
NM_001142463.3:c.1155+35_1155+36insAT	NP_001135935.1:n.1155+35_1155+36insAT
NR_110021.2:n.1734+35_1734+36insAT
NR_110022.2:n.1853+35_1853+36insAT
NR_110023.2:n.1627+35_1627+36insAT
NM_001288747.2:c.1155+35_1155+36insAT	NP_001275676.1:n.1155+35_1155+36insAT