Canonical Allele Identifier: CA337310634
Community Standard Title: NM_001363.5(DKC1):c.916-270dup
Gene: DKC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154770489dup , CM000685.2:g.154770489dup GRCh38
NC_000023.10:g.153998764dup , CM000685.1:g.153998764dup GRCh37
NC_000023.9:g.153651958dup NCBI36
NG_009780.1:g.12734dup , LRG_55:g.12734dup

Transcript Alleles

HGVS Amino-acid Change
NM_001363.5:c.916-270dup MANE Select NP_001354.1:n.916-270dup
ENST00000369550.10:c.916-270dup MANE Select ENSP00000358563.5:n.916-270dup
NM_001142463.2:c.916-270dup NP_001135935.1:n.916-270dup
NM_001142463.3:c.916-270dup NP_001135935.1:n.916-270dup
NM_001288747.1:c.916-270dup NP_001275676.1:n.916-270dup
NM_001288747.2:c.916-270dup NP_001275676.1:n.916-270dup
NM_001363.4:c.916-270dup NP_001354.1:n.916-270dup
NR_110021.1:n.1617-270dup
NR_110021.2:n.1495-270dup
NR_110022.1:n.1736-270dup
NR_110022.2:n.1614-270dup
NR_110023.1:n.1510-270dup
NR_110023.2:n.1388-270dup
ENST00000369550.9:c.916-270dup ENSP00000358563.5:n.916-270dup
ENST00000412124.5:c.174-270dup
ENST00000413910.6:c.796-270dup ENSP00000400542.2:n.796-270dup
ENST00000426673.5:c.276-270dup
ENST00000426673.6:c.*299-270dup ENSP00000407253.3:n.*299-270dup
ENST00000475966.1:n.405-270dup
ENST00000484317.5:n.554-270dup
ENST00000484317.6:n.701-270dup
ENST00000620277.4:c.916-270dup ENSP00000478387.1:n.916-270dup
ENST00000696575.1:c.916-270dup ENSP00000512730.1:n.916-270dup
ENST00000696577.1:c.916-270dup ENSP00000512731.1:n.916-270dup
ENST00000696578.1:c.915+1179dup ENSP00000512732.1:n.915+1179dup
ENST00000696579.1:n.1018-270dup
ENST00000696580.1:c.829-270dup ENSP00000512733.1:n.829-270dup
ENST00000696581.1:c.*890-270dup ENSP00000512734.1:n.*890-270dup
ENST00000696582.1:c.*122-270dup ENSP00000512735.1:n.*122-270dup
ENST00000696583.1:c.877-270dup ENSP00000512736.1:n.877-270dup
ENST00000696584.1:n.1440-270dup
ENST00000696585.1:n.1559-270dup
ENST00000696586.1:n.1333-270dup
ENST00000696587.1:c.796-270dup ENSP00000512737.1:n.796-270dup
ENST00000696588.1:c.307-270dup ENSP00000513251.1:n.307-270dup
ENST00000696589.1:n.691-270dup
ENST00000696590.1:n.540-270dup
ENST00000696591.1:n.265-270dup
ENST00000696627.1:c.916-270dup ENSP00000512764.1:n.916-270dup
ENST00000696628.1:c.916-270dup ENSP00000512765.1:n.916-270dup