Canonical Allele Identifier: CA915952073

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769320G>A , CM000685.2:g.154769320G>A	GRCh38
NC_000023.10:g.153997595G>A , CM000685.1:g.153997595G>A	GRCh37
NC_000023.9:g.153650789G>A	NCBI36
NG_009780.1:g.11565G>A , LRG_55:g.11565G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001363.5:c.915+10G>A MANE Select	NP_001354.1:n.915+10G>A
ENST00000369550.10:c.915+10G>A MANE Select	ENSP00000358563.5:n.915+10G>A
NM_001142463.2:c.915+10G>A	NP_001135935.1:n.915+10G>A
NM_001142463.3:c.915+10G>A	NP_001135935.1:n.915+10G>A
NM_001288747.1:c.915+10G>A	NP_001275676.1:n.915+10G>A
NM_001288747.2:c.915+10G>A	NP_001275676.1:n.915+10G>A
NM_001363.4:c.915+10G>A	NP_001354.1:n.915+10G>A
NR_110021.1:n.1616+10G>A
NR_110021.2:n.1494+10G>A
NR_110022.1:n.1735+10G>A
NR_110022.2:n.1613+10G>A
NR_110023.1:n.1509+10G>A
NR_110023.2:n.1387+10G>A
ENST00000369550.9:c.915+10G>A	ENSP00000358563.5:n.915+10G>A
ENST00000412124.5:c.174-1439G>A
ENST00000413910.6:c.795+10G>A	ENSP00000400542.2:n.795+10G>A
ENST00000426673.5:c.275+10G>A
ENST00000426673.6:c.*298+10G>A	ENSP00000407253.3:n.*298+10G>A
ENST00000475966.1:n.404+10G>A
ENST00000484317.5:n.553+10G>A
ENST00000484317.6:n.700+10G>A
ENST00000620277.4:c.915+10G>A	ENSP00000478387.1:n.915+10G>A
ENST00000696575.1:c.915+10G>A	ENSP00000512730.1:n.915+10G>A
ENST00000696576.1:n.1027G>A
ENST00000696577.1:c.915+10G>A	ENSP00000512731.1:n.915+10G>A
ENST00000696578.1:c.915+10G>A	ENSP00000512732.1:n.915+10G>A
ENST00000696579.1:n.1017+10G>A
ENST00000696580.1:c.828+10G>A	ENSP00000512733.1:n.828+10G>A
ENST00000696581.1:c.*889+10G>A	ENSP00000512734.1:n.*889+10G>A
ENST00000696582.1:c.*121+10G>A	ENSP00000512735.1:n.*121+10G>A
ENST00000696583.1:c.876+10G>A	ENSP00000512736.1:n.876+10G>A
ENST00000696584.1:n.1439+10G>A
ENST00000696585.1:n.1558+10G>A
ENST00000696586.1:n.1332+10G>A
ENST00000696587.1:c.795+10G>A	ENSP00000512737.1:n.795+10G>A
ENST00000696588.1:c.306+10G>A	ENSP00000513251.1:n.306+10G>A
ENST00000696589.1:n.690+10G>A
ENST00000696590.1:n.539+10G>A
ENST00000696591.1:n.264+10G>A
ENST00000696627.1:c.915+10G>A	ENSP00000512764.1:n.915+10G>A
ENST00000696628.1:c.915+10G>A	ENSP00000512765.1:n.915+10G>A