Canonical Allele Identifier: CA2695237099

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154765471_154765475delinsTCAAC , CM000685.2:g.154765471_154765475delinsTCAAC	GRCh38
NC_000023.10:g.153993746_153993750delinsTCAAC , CM000685.1:g.153993746_153993750delinsTCAAC	GRCh37
NC_000023.9:g.153646940_153646944delinsTCAAC	NCBI36
NG_009780.1:g.7716_7720delinsTCAAC , LRG_55:g.7716_7720delinsTCAAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.112_116delinsTCAAC	ENSP00000400542.2:p.Ile38_Lys39delinsSerT...
ENST00000426673.6:c.112_116delinsTCAAC	ENSP00000407253.3:p.Ile38_Lys39delinsSerT...
ENST00000696575.1:c.112_116delinsTCAAC	ENSP00000512730.1:p.Ile38_Lys39delinsSerT...
ENST00000696576.1:n.214_218delinsTCAAC
ENST00000696577.1:c.112_116delinsTCAAC	ENSP00000512731.1:p.Ile38_Lys39delinsSerT...
ENST00000696578.1:c.112_116delinsTCAAC	ENSP00000512732.1:p.Ile38_Lys39delinsSerT...
ENST00000696579.1:n.214_218delinsTCAAC
ENST00000696580.1:c.85-436_85-432delinsTCAAC	ENSP00000512733.1:n.85-436_85-432delinsTC...
ENST00000696581.1:c.*86_*90delinsTCAAC	ENSP00000512734.1:n.*86_*90delinsTCAAC
ENST00000696582.1:c.112_116delinsTCAAC	ENSP00000512735.1:p.Ile38_Lys39delinsSerT...
ENST00000696583.1:c.112_116delinsTCAAC	ENSP00000512736.1:p.Ile38_Lys39delinsSerT...
ENST00000696584.1:n.636_640delinsTCAAC
ENST00000696585.1:n.159_163delinsTCAAC
ENST00000696586.1:n.159_163delinsTCAAC
ENST00000696587.1:c.112_116delinsTCAAC	ENSP00000512737.1:p.Ile38_Lys39delinsSerT...
ENST00000696588.1:c.-498_-494delinsTCAAC	ENSP00000513251.1:n.-498_-494delinsTCAAC
ENST00000696627.1:c.112_116delinsTCAAC	ENSP00000512764.1:p.Ile38_Lys39delinsSerT...
ENST00000696628.1:c.112_116delinsTCAAC	ENSP00000512765.1:p.Ile38_Lys39delinsSerT...
ENST00000369550.10:c.112_116delinsTCAAC MANE Select	ENSP00000358563.5:p.Ile38_Lys39delinsSerT...
ENST00000369550.9:c.112_116delinsTCAAC	ENSP00000358563.5:p.Ile38_Lys39delinsSerT...
ENST00000413910.5:c.112_116delinsTCAAC	ENSP00000400542.1:p.Ile38_Lys39delinsSerT...
ENST00000437719.5:c.68_72delinsTCAAC
ENST00000452771.5:c.70_74delinsTCAAC	ENSP00000407325.1:p.Ile24_Lys25delinsSerT...
ENST00000473552.1:n.165_169delinsTCAAC
ENST00000620277.4:c.112_116delinsTCAAC	ENSP00000478387.1:p.Ile38_Lys39delinsSerT...
NM_001142463.2:c.112_116delinsTCAAC	NP_001135935.1:p.Ile38_Lys39delinsSerThr
NM_001288747.1:c.112_116delinsTCAAC	NP_001275676.1:p.Ile38_Lys39delinsSerThr
NM_001363.4:c.112_116delinsTCAAC	NP_001354.1:p.Ile38_Lys39delinsSerThr
NR_110021.1:n.813_817delinsTCAAC
NR_110022.1:n.336_340delinsTCAAC
NR_110023.1:n.336_340delinsTCAAC
NM_001363.5:c.112_116delinsTCAAC MANE Select	NP_001354.1:p.Ile38_Lys39delinsSerThr
NM_001142463.3:c.112_116delinsTCAAC	NP_001135935.1:p.Ile38_Lys39delinsSerThr
NR_110021.2:n.691_695delinsTCAAC
NR_110022.2:n.214_218delinsTCAAC
NR_110023.2:n.214_218delinsTCAAC
NM_001288747.2:c.112_116delinsTCAAC	NP_001275676.1:p.Ile38_Lys39delinsSerThr