Canonical Allele Identifier: CA873371276

Gene: DKC1

Linked Data

• dbSNP Id: rs1347823179
• MyVariant Identifiers: chrX:g.154776273del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776274del , CM000685.2:g.154776274del	GRCh38
NC_000023.10:g.154004549del , CM000685.1:g.154004549del	GRCh37
NC_000023.9:g.153657743del	NCBI36
NG_009780.1:g.18519del , LRG_55:g.18519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*222del	ENSP00000400542.2:n.*222del
ENST00000426673.6:c.*868del	ENSP00000407253.3:n.*868del
ENST00000484317.6:n.1700del
ENST00000492372.2:n.364del
ENST00000696575.1:c.1411del	ENSP00000512730.1:p.Asp471ThrfsTer?
ENST00000696577.1:c.1426del	ENSP00000512731.1:p.Asp476ThrfsTer?
ENST00000696578.1:c.*378del	ENSP00000512732.1:n.*378del
ENST00000696579.1:n.2441del
ENST00000696580.1:c.1339del	ENSP00000512733.1:p.Asp447ThrfsTer?
ENST00000696581.1:c.*1400del	ENSP00000512734.1:n.*1400del
ENST00000696582.1:c.*632del	ENSP00000512735.1:n.*632del
ENST00000696583.1:c.1387del	ENSP00000512736.1:p.Asp463ThrfsTer?
ENST00000696584.1:n.1950del
ENST00000696585.1:n.2069del
ENST00000696586.1:n.1843del
ENST00000696587.1:c.1306del	ENSP00000512737.1:p.Asp436ThrfsTer?
ENST00000696588.1:c.817del	ENSP00000513251.1:p.Asp273ThrfsTer?
ENST00000696589.1:n.1201del
ENST00000696590.1:n.2452del
ENST00000696591.1:n.775del
ENST00000696592.1:n.3707del
ENST00000696627.1:c.*252del	ENSP00000512764.1:n.*252del
ENST00000696628.1:c.1426del	ENSP00000512765.1:p.Asp476ThrfsTer19
ENST00000369550.10:c.1426del MANE Select	ENSP00000358563.5:p.Asp476ThrfsTer?
ENST00000369550.9:c.1426del	ENSP00000358563.5:p.Asp476ThrfsTer?
ENST00000492372.1:n.243del
ENST00000620277.4:c.*652del	ENSP00000478387.1:n.*652del
NM_001142463.2:c.1411del	NP_001135935.1:p.Asp471ThrfsTer?
NM_001288747.1:c.*652del	NP_001275676.1:n.*652del
NM_001363.4:c.1426del	NP_001354.1:p.Asp476ThrfsTer?
NR_110021.1:n.2127del
NR_110022.1:n.2246del
NR_110023.1:n.2020del
NM_001363.5:c.1426del MANE Select	NP_001354.1:p.Asp476ThrfsTer?
NM_001142463.3:c.1411del	NP_001135935.1:p.Asp471ThrfsTer?
NR_110021.2:n.2005del
NR_110022.2:n.2124del
NR_110023.2:n.1898del
NM_001288747.2:c.*652del	NP_001275676.1:n.*652del