Canonical Allele Identifier: CA2739273846

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154762970_154762972del , CM000685.2:g.154762970_154762972del	GRCh38
NC_000023.10:g.153991245_153991247del , CM000685.1:g.153991245_153991247del	GRCh37
NC_000023.9:g.153644439_153644441del	NCBI36
NG_009780.1:g.5215_5217del , LRG_55:g.5215_5217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.5_7del	ENSP00000400542.2:p.Ala2del
ENST00000426673.6:c.5_7del	ENSP00000407253.3:p.Ala2del
ENST00000696575.1:c.5_7del	ENSP00000512730.1:p.Ala2del
ENST00000696576.1:n.107_109del
ENST00000696577.1:c.5_7del	ENSP00000512731.1:p.Ala2del
ENST00000696578.1:c.5_7del	ENSP00000512732.1:p.Ala2del
ENST00000696579.1:n.107_109del
ENST00000696580.1:c.5_7del	ENSP00000512733.1:p.Ala2del
ENST00000696581.1:c.5_7del	ENSP00000512734.1:p.Ala2del
ENST00000696582.1:c.5_7del	ENSP00000512735.1:p.Ala2del
ENST00000696583.1:c.5_7del	ENSP00000512736.1:p.Ala2del
ENST00000696584.1:n.52_54del
ENST00000696585.1:n.52_54del
ENST00000696586.1:n.52_54del
ENST00000696587.1:c.5_7del	ENSP00000512737.1:p.Ala2del
ENST00000696627.1:c.5_7del	ENSP00000512764.1:p.Ala2del
ENST00000696628.1:c.5_7del	ENSP00000512765.1:p.Ala2del
ENST00000369550.10:c.5_7del MANE Select	ENSP00000358563.5:p.Ala2del
ENST00000369550.9:c.5_7del	ENSP00000358563.5:p.Ala2del
ENST00000413910.5:c.5_7del	ENSP00000400542.1:p.Ala2del
ENST00000473552.1:n.58_60del
ENST00000475423.1:n.119_121del
ENST00000620277.4:c.5_7del	ENSP00000478387.1:p.Ala2del
NM_001142463.2:c.5_7del	NP_001135935.1:p.Ala2del
NM_001288747.1:c.5_7del	NP_001275676.1:p.Ala2del
NM_001363.4:c.5_7del	NP_001354.1:p.Ala2del
NR_110021.1:n.229_231del
NR_110022.1:n.229_231del
NR_110023.1:n.229_231del
NM_001363.5:c.5_7del MANE Select	NP_001354.1:p.Ala2del
NM_001142463.3:c.5_7del	NP_001135935.1:p.Ala2del
NR_110021.2:n.107_109del
NR_110022.2:n.107_109del
NR_110023.2:n.107_109del
NM_001288747.2:c.5_7del	NP_001275676.1:p.Ala2del