Canonical Allele Identifier: CA2695161182

Gene: DKC1

Linked Data

• gnomAD v4: X-154773032-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773035_154773036del , CM000685.2:g.154773035_154773036del	GRCh38
NC_000023.10:g.154001310_154001311del , CM000685.1:g.154001310_154001311del	GRCh37
NC_000023.9:g.153654504_153654505del	NCBI36
NG_009780.1:g.15280_15281del , LRG_55:g.15280_15281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.917-96_917-95del	ENSP00000400542.2:n.917-96_917-95del
ENST00000426673.6:c.*420-96_*420-95del	ENSP00000407253.3:n.*420-96_*420-95del
ENST00000484317.6:n.822-96_822-95del
ENST00000696575.1:c.1037-96_1037-95del	ENSP00000512730.1:n.1037-96_1037-95del
ENST00000696577.1:c.1037-96_1037-95del	ENSP00000512731.1:n.1037-96_1037-95del
ENST00000696578.1:c.916-96_916-95del	ENSP00000512732.1:n.916-96_916-95del
ENST00000696579.1:n.1139-96_1139-95del
ENST00000696580.1:c.950-96_950-95del	ENSP00000512733.1:n.950-96_950-95del
ENST00000696581.1:c.*1011-96_*1011-95del	ENSP00000512734.1:n.*1011-96_*1011-95del
ENST00000696582.1:c.*243-96_*243-95del	ENSP00000512735.1:n.*243-96_*243-95del
ENST00000696583.1:c.998-96_998-95del	ENSP00000512736.1:n.998-96_998-95del
ENST00000696584.1:n.1561-96_1561-95del
ENST00000696585.1:n.1680-96_1680-95del
ENST00000696586.1:n.1454-96_1454-95del
ENST00000696587.1:c.917-96_917-95del	ENSP00000512737.1:n.917-96_917-95del
ENST00000696588.1:c.428-96_428-95del	ENSP00000513251.1:n.428-96_428-95del
ENST00000696589.1:n.812-96_812-95del
ENST00000696590.1:n.661-96_661-95del
ENST00000696591.1:n.386-96_386-95del
ENST00000696592.1:n.1820_1821del
ENST00000696627.1:c.1037-96_1037-95del	ENSP00000512764.1:n.1037-96_1037-95del
ENST00000696628.1:c.1037-96_1037-95del	ENSP00000512765.1:n.1037-96_1037-95del
ENST00000369550.10:c.1037-96_1037-95del MANE Select	ENSP00000358563.5:n.1037-96_1037-95del
ENST00000369550.9:c.1037-96_1037-95del	ENSP00000358563.5:n.1037-96_1037-95del
ENST00000412124.5:c.295-96_295-95del
ENST00000426673.5:c.397-96_397-95del
ENST00000475966.1:n.526-96_526-95del
ENST00000620277.4:c.1037-96_1037-95del	ENSP00000478387.1:n.1037-96_1037-95del
NM_001142463.2:c.1037-96_1037-95del	NP_001135935.1:n.1037-96_1037-95del
NM_001288747.1:c.1037-96_1037-95del	NP_001275676.1:n.1037-96_1037-95del
NM_001363.4:c.1037-96_1037-95del	NP_001354.1:n.1037-96_1037-95del
NR_110021.1:n.1738-96_1738-95del
NR_110022.1:n.1857-96_1857-95del
NR_110023.1:n.1631-96_1631-95del
NM_001363.5:c.1037-96_1037-95del MANE Select	NP_001354.1:n.1037-96_1037-95del
NM_001142463.3:c.1037-96_1037-95del	NP_001135935.1:n.1037-96_1037-95del
NR_110021.2:n.1616-96_1616-95del
NR_110022.2:n.1735-96_1735-95del
NR_110023.2:n.1509-96_1509-95del
NM_001288747.2:c.1037-96_1037-95del	NP_001275676.1:n.1037-96_1037-95del