Canonical Allele Identifier: CA2695161194

Gene: DKC1

Linked Data

• gnomAD v4: X-154773056-CAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773059_154773061del , CM000685.2:g.154773059_154773061del	GRCh38
NC_000023.10:g.154001334_154001336del , CM000685.1:g.154001334_154001336del	GRCh37
NC_000023.9:g.153654528_153654530del	NCBI36
NG_009780.1:g.15304_15306del , LRG_55:g.15304_15306del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.917-72_917-70del	ENSP00000400542.2:n.917-72_917-70del
ENST00000426673.6:c.*420-72_*420-70del	ENSP00000407253.3:n.*420-72_*420-70del
ENST00000484317.6:n.822-72_822-70del
ENST00000696575.1:c.1037-72_1037-70del	ENSP00000512730.1:n.1037-72_1037-70del
ENST00000696577.1:c.1037-72_1037-70del	ENSP00000512731.1:n.1037-72_1037-70del
ENST00000696578.1:c.916-72_916-70del	ENSP00000512732.1:n.916-72_916-70del
ENST00000696579.1:n.1139-72_1139-70del
ENST00000696580.1:c.950-72_950-70del	ENSP00000512733.1:n.950-72_950-70del
ENST00000696581.1:c.*1011-72_*1011-70del	ENSP00000512734.1:n.*1011-72_*1011-70del
ENST00000696582.1:c.*243-72_*243-70del	ENSP00000512735.1:n.*243-72_*243-70del
ENST00000696583.1:c.998-72_998-70del	ENSP00000512736.1:n.998-72_998-70del
ENST00000696584.1:n.1561-72_1561-70del
ENST00000696585.1:n.1680-72_1680-70del
ENST00000696586.1:n.1454-72_1454-70del
ENST00000696587.1:c.917-72_917-70del	ENSP00000512737.1:n.917-72_917-70del
ENST00000696588.1:c.428-72_428-70del	ENSP00000513251.1:n.428-72_428-70del
ENST00000696589.1:n.812-72_812-70del
ENST00000696590.1:n.661-72_661-70del
ENST00000696591.1:n.386-72_386-70del
ENST00000696592.1:n.1844_1846del
ENST00000696627.1:c.1037-72_1037-70del	ENSP00000512764.1:n.1037-72_1037-70del
ENST00000696628.1:c.1037-72_1037-70del	ENSP00000512765.1:n.1037-72_1037-70del
ENST00000369550.10:c.1037-72_1037-70del MANE Select	ENSP00000358563.5:n.1037-72_1037-70del
ENST00000369550.9:c.1037-72_1037-70del	ENSP00000358563.5:n.1037-72_1037-70del
ENST00000412124.5:c.295-72_295-70del
ENST00000426673.5:c.397-72_397-70del
ENST00000475966.1:n.526-72_526-70del
ENST00000620277.4:c.1037-72_1037-70del	ENSP00000478387.1:n.1037-72_1037-70del
NM_001142463.2:c.1037-72_1037-70del	NP_001135935.1:n.1037-72_1037-70del
NM_001288747.1:c.1037-72_1037-70del	NP_001275676.1:n.1037-72_1037-70del
NM_001363.4:c.1037-72_1037-70del	NP_001354.1:n.1037-72_1037-70del
NR_110021.1:n.1738-72_1738-70del
NR_110022.1:n.1857-72_1857-70del
NR_110023.1:n.1631-72_1631-70del
NM_001363.5:c.1037-72_1037-70del MANE Select	NP_001354.1:n.1037-72_1037-70del
NM_001142463.3:c.1037-72_1037-70del	NP_001135935.1:n.1037-72_1037-70del
NR_110021.2:n.1616-72_1616-70del
NR_110022.2:n.1735-72_1735-70del
NR_110023.2:n.1509-72_1509-70del
NM_001288747.2:c.1037-72_1037-70del	NP_001275676.1:n.1037-72_1037-70del