Canonical Allele Identifier: CA2695162342

Gene: DKC1

Linked Data

• gnomAD v4: X-154776168-C-CCAATTGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776169_154776176dup , CM000685.2:g.154776169_154776176dup	GRCh38
NC_000023.10:g.154004444_154004451dup , CM000685.1:g.154004444_154004451dup	GRCh37
NC_000023.9:g.153657638_153657645dup	NCBI36
NG_009780.1:g.18414_18421dup , LRG_55:g.18414_18421dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*135-18_*135-11dup	ENSP00000400542.2:n.*135-18_*135-11dup
ENST00000426673.6:c.*781-18_*781-11dup	ENSP00000407253.3:n.*781-18_*781-11dup
ENST00000484317.6:n.1613-18_1613-11dup
ENST00000492372.2:n.277-18_277-11dup
ENST00000696575.1:c.1324-18_1324-11dup	ENSP00000512730.1:n.1324-18_1324-11dup
ENST00000696577.1:c.1339-18_1339-11dup	ENSP00000512731.1:n.1339-18_1339-11dup
ENST00000696578.1:c.*291-18_*291-11dup	ENSP00000512732.1:n.*291-18_*291-11dup
ENST00000696579.1:n.2336_2343dup
ENST00000696580.1:c.1252-18_1252-11dup	ENSP00000512733.1:n.1252-18_1252-11dup
ENST00000696581.1:c.*1313-18_*1313-11dup	ENSP00000512734.1:n.*1313-18_*1313-11dup
ENST00000696582.1:c.*545-18_*545-11dup	ENSP00000512735.1:n.*545-18_*545-11dup
ENST00000696583.1:c.1300-18_1300-11dup	ENSP00000512736.1:n.1300-18_1300-11dup
ENST00000696584.1:n.1863-18_1863-11dup
ENST00000696585.1:n.1982-18_1982-11dup
ENST00000696586.1:n.1756-18_1756-11dup
ENST00000696587.1:c.1219-18_1219-11dup	ENSP00000512737.1:n.1219-18_1219-11dup
ENST00000696588.1:c.730-18_730-11dup	ENSP00000513251.1:n.730-18_730-11dup
ENST00000696589.1:n.1114-18_1114-11dup
ENST00000696590.1:n.2347_2354dup
ENST00000696591.1:n.688-18_688-11dup
ENST00000696592.1:n.3602_3609dup
ENST00000696627.1:c.*165-18_*165-11dup	ENSP00000512764.1:n.*165-18_*165-11dup
ENST00000696628.1:c.1339-18_1339-11dup	ENSP00000512765.1:n.1339-18_1339-11dup
ENST00000369550.10:c.1339-18_1339-11dup MANE Select	ENSP00000358563.5:n.1339-18_1339-11dup
ENST00000369550.9:c.1339-18_1339-11dup	ENSP00000358563.5:n.1339-18_1339-11dup
ENST00000412124.5:c.597-18_597-11dup
ENST00000426673.5:c.758-18_758-11dup
ENST00000475966.1:n.828-18_828-11dup
ENST00000492372.1:n.156-18_156-11dup
ENST00000620277.4:c.*565-18_*565-11dup	ENSP00000478387.1:n.*565-18_*565-11dup
NM_001142463.2:c.1324-18_1324-11dup	NP_001135935.1:n.1324-18_1324-11dup
NM_001288747.1:c.*565-18_*565-11dup	NP_001275676.1:n.*565-18_*565-11dup
NM_001363.4:c.1339-18_1339-11dup	NP_001354.1:n.1339-18_1339-11dup
NR_110021.1:n.2040-18_2040-11dup
NR_110022.1:n.2159-18_2159-11dup
NR_110023.1:n.1933-18_1933-11dup
NM_001363.5:c.1339-18_1339-11dup MANE Select	NP_001354.1:n.1339-18_1339-11dup
NM_001142463.3:c.1324-18_1324-11dup	NP_001135935.1:n.1324-18_1324-11dup
NR_110021.2:n.1918-18_1918-11dup
NR_110022.2:n.2037-18_2037-11dup
NR_110023.2:n.1811-18_1811-11dup
NM_001288747.2:c.*565-18_*565-11dup	NP_001275676.1:n.*565-18_*565-11dup