Canonical Allele Identifier: CA2466787078

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154772928_154772933delinsAAGTTT , CM000685.2:g.154772928_154772933delinsAAGTTT	GRCh38
NC_000023.10:g.154001203_154001208delinsAAGTTT , CM000685.1:g.154001203_154001208delinsAAGTTT	GRCh37
NC_000023.9:g.153654397_153654402delinsAAGTTT	NCBI36
NG_009780.1:g.15173_15178delinsAAGTTT , LRG_55:g.15173_15178delinsAAGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.917-203_917-198delinsAAGTTT	ENSP00000400542.2:n.917-203_917-198delinsAAGTTT
ENST00000426673.6:c.*420-203_*420-198delinsAAGTTT	ENSP00000407253.3:n.*420-203_*420-198delinsAAGTTT
ENST00000484317.6:n.822-203_822-198delinsAAGTTT
ENST00000696575.1:c.1037-203_1037-198delinsAAGTTT	ENSP00000512730.1:n.1037-203_1037-198delinsAAGTTT
ENST00000696577.1:c.1037-203_1037-198delinsAAGTTT	ENSP00000512731.1:n.1037-203_1037-198delinsAAGTTT
ENST00000696578.1:c.916-203_916-198delinsAAGTTT	ENSP00000512732.1:n.916-203_916-198delinsAAGTTT
ENST00000696579.1:n.1139-203_1139-198delinsAAGTTT
ENST00000696580.1:c.950-203_950-198delinsAAGTTT	ENSP00000512733.1:n.950-203_950-198delinsAAGTTT
ENST00000696581.1:c.*1011-203_*1011-198delinsAAGTTT	ENSP00000512734.1:n.*1011-203_*1011-198delinsAAGTTT
ENST00000696582.1:c.*243-203_*243-198delinsAAGTTT	ENSP00000512735.1:n.*243-203_*243-198delinsAAGTTT
ENST00000696583.1:c.998-203_998-198delinsAAGTTT	ENSP00000512736.1:n.998-203_998-198delinsAAGTTT
ENST00000696584.1:n.1561-203_1561-198delinsAAGTTT
ENST00000696585.1:n.1680-203_1680-198delinsAAGTTT
ENST00000696586.1:n.1454-203_1454-198delinsAAGTTT
ENST00000696587.1:c.917-203_917-198delinsAAGTTT	ENSP00000512737.1:n.917-203_917-198delinsAAGTTT
ENST00000696588.1:c.428-203_428-198delinsAAGTTT	ENSP00000513251.1:n.428-203_428-198delinsAAGTTT
ENST00000696589.1:n.812-203_812-198delinsAAGTTT
ENST00000696590.1:n.661-203_661-198delinsAAGTTT
ENST00000696591.1:n.386-203_386-198delinsAAGTTT
ENST00000696592.1:n.1713_1718delinsAAGTTT
ENST00000696627.1:c.1037-203_1037-198delinsAAGTTT	ENSP00000512764.1:n.1037-203_1037-198delinsAAGTTT
ENST00000696628.1:c.1037-203_1037-198delinsAAGTTT	ENSP00000512765.1:n.1037-203_1037-198delinsAAGTTT
ENST00000369550.10:c.1037-203_1037-198delinsAAGTTT MANE Select	ENSP00000358563.5:n.1037-203_1037-198delinsAAGTTT
ENST00000369550.9:c.1037-203_1037-198delinsAAGTTT	ENSP00000358563.5:n.1037-203_1037-198delinsAAGTTT
ENST00000412124.5:c.295-203_295-198delinsAAGTTT
ENST00000426673.5:c.397-203_397-198delinsAAGTTT
ENST00000475966.1:n.526-203_526-198delinsAAGTTT
ENST00000620277.4:c.1037-203_1037-198delinsAAGTTT	ENSP00000478387.1:n.1037-203_1037-198delinsAAGTTT
NM_001142463.2:c.1037-203_1037-198delinsAAGTTT	NP_001135935.1:n.1037-203_1037-198delinsAAGTTT
NM_001288747.1:c.1037-203_1037-198delinsAAGTTT	NP_001275676.1:n.1037-203_1037-198delinsAAGTTT
NM_001363.4:c.1037-203_1037-198delinsAAGTTT	NP_001354.1:n.1037-203_1037-198delinsAAGTTT
NR_110021.1:n.1738-203_1738-198delinsAAGTTT
NR_110022.1:n.1857-203_1857-198delinsAAGTTT
NR_110023.1:n.1631-203_1631-198delinsAAGTTT
NM_001363.5:c.1037-203_1037-198delinsAAGTTT MANE Select	NP_001354.1:n.1037-203_1037-198delinsAAGTTT
NM_001142463.3:c.1037-203_1037-198delinsAAGTTT	NP_001135935.1:n.1037-203_1037-198delinsAAGTTT
NR_110021.2:n.1616-203_1616-198delinsAAGTTT
NR_110022.2:n.1735-203_1735-198delinsAAGTTT
NR_110023.2:n.1509-203_1509-198delinsAAGTTT
NM_001288747.2:c.1037-203_1037-198delinsAAGTTT	NP_001275676.1:n.1037-203_1037-198delinsAAGTTT