Canonical Allele Identifier: CA1138580644

Gene: DKC1

Linked Data

• gnomAD v3: X-154773284-C-CTTTTTT
• gnomAD v4: X-154773284-C-CTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773301_154773306dup , CM000685.2:g.154773301_154773306dup	GRCh38
NC_000023.10:g.154001576_154001581dup , CM000685.1:g.154001576_154001581dup	GRCh37
NC_000023.9:g.153654770_153654775dup	NCBI36
NG_009780.1:g.15546_15551dup , LRG_55:g.15546_15551dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1035+52_1035+57dup	ENSP00000400542.2:n.1035+52_1035+57dup
ENST00000426673.6:c.*538+52_*538+57dup	ENSP00000407253.3:n.*538+52_*538+57dup
ENST00000484317.6:n.940+52_940+57dup
ENST00000696575.1:c.1155+52_1155+57dup	ENSP00000512730.1:n.1155+52_1155+57dup
ENST00000696577.1:c.1155+52_1155+57dup	ENSP00000512731.1:n.1155+52_1155+57dup
ENST00000696578.1:c.*107+52_*107+57dup	ENSP00000512732.1:n.*107+52_*107+57dup
ENST00000696579.1:n.1257+52_1257+57dup
ENST00000696580.1:c.1068+52_1068+57dup	ENSP00000512733.1:n.1068+52_1068+57dup
ENST00000696581.1:c.*1129+52_*1129+57dup	ENSP00000512734.1:n.*1129+52_*1129+57dup
ENST00000696582.1:c.*361+52_*361+57dup	ENSP00000512735.1:n.*361+52_*361+57dup
ENST00000696583.1:c.1116+52_1116+57dup	ENSP00000512736.1:n.1116+52_1116+57dup
ENST00000696584.1:n.1679+52_1679+57dup
ENST00000696585.1:n.1798+52_1798+57dup
ENST00000696586.1:n.1572+52_1572+57dup
ENST00000696587.1:c.1035+52_1035+57dup	ENSP00000512737.1:n.1035+52_1035+57dup
ENST00000696588.1:c.546+52_546+57dup	ENSP00000513251.1:n.546+52_546+57dup
ENST00000696589.1:n.930+52_930+57dup
ENST00000696590.1:n.779+52_779+57dup
ENST00000696591.1:n.504+52_504+57dup
ENST00000696592.1:n.2034+52_2034+57dup
ENST00000696627.1:c.1159+48_1159+53dup	ENSP00000512764.1:n.1159+48_1159+53dup
ENST00000696628.1:c.1155+52_1155+57dup	ENSP00000512765.1:n.1155+52_1155+57dup
ENST00000369550.10:c.1155+52_1155+57dup MANE Select	ENSP00000358563.5:n.1155+52_1155+57dup
ENST00000369550.9:c.1155+52_1155+57dup	ENSP00000358563.5:n.1155+52_1155+57dup
ENST00000412124.5:c.413+52_413+57dup
ENST00000426673.5:c.515+52_515+57dup
ENST00000475966.1:n.644+52_644+57dup
ENST00000481062.1:n.106+52_106+57dup
ENST00000620277.4:c.1155+52_1155+57dup	ENSP00000478387.1:n.1155+52_1155+57dup
NM_001142463.2:c.1155+52_1155+57dup	NP_001135935.1:n.1155+52_1155+57dup
NM_001288747.1:c.1155+52_1155+57dup	NP_001275676.1:n.1155+52_1155+57dup
NM_001363.4:c.1155+52_1155+57dup	NP_001354.1:n.1155+52_1155+57dup
NR_110021.1:n.1856+52_1856+57dup
NR_110022.1:n.1975+52_1975+57dup
NR_110023.1:n.1749+52_1749+57dup
NM_001363.5:c.1155+52_1155+57dup MANE Select	NP_001354.1:n.1155+52_1155+57dup
NM_001142463.3:c.1155+52_1155+57dup	NP_001135935.1:n.1155+52_1155+57dup
NR_110021.2:n.1734+52_1734+57dup
NR_110022.2:n.1853+52_1853+57dup
NR_110023.2:n.1627+52_1627+57dup
NM_001288747.2:c.1155+52_1155+57dup	NP_001275676.1:n.1155+52_1155+57dup