Canonical Allele Identifier: CA2695162430

Gene: DKC1

Linked Data

• gnomAD v4: X-154776253-GAAAAGAAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776255_154776263del , CM000685.2:g.154776255_154776263del	GRCh38
NC_000023.10:g.154004530_154004538del , CM000685.1:g.154004530_154004538del	GRCh37
NC_000023.9:g.153657724_153657732del	NCBI36
NG_009780.1:g.18500_18508del , LRG_55:g.18500_18508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*203_*211del	ENSP00000400542.2:n.*203_*211del
ENST00000426673.6:c.*849_*857del	ENSP00000407253.3:n.*849_*857del
ENST00000484317.6:n.1681_1689del
ENST00000492372.2:n.345_353del
ENST00000696575.1:c.1392_1400del	ENSP00000512730.1:p.Lys465_Lys467del
ENST00000696577.1:c.1407_1415del	ENSP00000512731.1:p.Lys470_Lys472del
ENST00000696578.1:c.*359_*367del	ENSP00000512732.1:n.*359_*367del
ENST00000696579.1:n.2422_2430del
ENST00000696580.1:c.1320_1328del	ENSP00000512733.1:p.Lys441_Lys443del
ENST00000696581.1:c.*1381_*1389del	ENSP00000512734.1:n.*1381_*1389del
ENST00000696582.1:c.*613_*621del	ENSP00000512735.1:n.*613_*621del
ENST00000696583.1:c.1368_1376del	ENSP00000512736.1:p.Lys457_Lys459del
ENST00000696584.1:n.1931_1939del
ENST00000696585.1:n.2050_2058del
ENST00000696586.1:n.1824_1832del
ENST00000696587.1:c.1287_1295del	ENSP00000512737.1:p.Lys430_Lys432del
ENST00000696588.1:c.798_806del	ENSP00000513251.1:p.Lys267_Lys269del
ENST00000696589.1:n.1182_1190del
ENST00000696590.1:n.2433_2441del
ENST00000696591.1:n.756_764del
ENST00000696592.1:n.3688_3696del
ENST00000696627.1:c.*233_*241del	ENSP00000512764.1:n.*233_*241del
ENST00000696628.1:c.1407_1415del	ENSP00000512765.1:p.Lys470_Lys472del
ENST00000369550.10:c.1407_1415del MANE Select	ENSP00000358563.5:p.Lys470_Lys472del
ENST00000369550.9:c.1407_1415del	ENSP00000358563.5:p.Lys470_Lys472del
ENST00000426673.5:c.826_834del
ENST00000492372.1:n.224_232del
ENST00000620277.4:c.*633_*641del	ENSP00000478387.1:n.*633_*641del
NM_001142463.2:c.1392_1400del	NP_001135935.1:p.Lys465_Lys467del
NM_001288747.1:c.*633_*641del	NP_001275676.1:n.*633_*641del
NM_001363.4:c.1407_1415del	NP_001354.1:p.Lys470_Lys472del
NR_110021.1:n.2108_2116del
NR_110022.1:n.2227_2235del
NR_110023.1:n.2001_2009del
NM_001363.5:c.1407_1415del MANE Select	NP_001354.1:p.Lys470_Lys472del
NM_001142463.3:c.1392_1400del	NP_001135935.1:p.Lys465_Lys467del
NR_110021.2:n.1986_1994del
NR_110022.2:n.2105_2113del
NR_110023.2:n.1879_1887del
NM_001288747.2:c.*633_*641del	NP_001275676.1:n.*633_*641del