Canonical Allele Identifier: CA1138598213

Gene: DKC1

Linked Data

• dbSNP Id: rs2071730039
• gnomAD v3: X-154765196-TCTTC-T
• gnomAD v4: X-154765196-TCTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154765200_154765203del , CM000685.2:g.154765200_154765203del	GRCh38
NC_000023.10:g.153993475_153993478del , CM000685.1:g.153993475_153993478del	GRCh37
NC_000023.9:g.153646669_153646672del	NCBI36
NG_009780.1:g.7445_7448del , LRG_55:g.7445_7448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.84+234_84+237del	ENSP00000400542.2:n.84+234_84+237del
ENST00000426673.6:c.84+234_84+237del	ENSP00000407253.3:n.84+234_84+237del
ENST00000696575.1:c.84+234_84+237del	ENSP00000512730.1:n.84+234_84+237del
ENST00000696576.1:n.186+234_186+237del
ENST00000696577.1:c.84+234_84+237del	ENSP00000512731.1:n.84+234_84+237del
ENST00000696578.1:c.84+234_84+237del	ENSP00000512732.1:n.84+234_84+237del
ENST00000696579.1:n.186+234_186+237del
ENST00000696580.1:c.84+234_84+237del	ENSP00000512733.1:n.84+234_84+237del
ENST00000696581.1:c.85-120_85-117del	ENSP00000512734.1:n.85-120_85-117del
ENST00000696582.1:c.84+234_84+237del	ENSP00000512735.1:n.84+234_84+237del
ENST00000696583.1:c.84+234_84+237del	ENSP00000512736.1:n.84+234_84+237del
ENST00000696584.1:n.365_368del
ENST00000696585.1:n.131+234_131+237del
ENST00000696586.1:n.131+234_131+237del
ENST00000696587.1:c.84+234_84+237del	ENSP00000512737.1:n.84+234_84+237del
ENST00000696588.1:c.-769_-766del	ENSP00000513251.1:n.-769_-766del
ENST00000696627.1:c.84+234_84+237del	ENSP00000512764.1:n.84+234_84+237del
ENST00000696628.1:c.84+234_84+237del	ENSP00000512765.1:n.84+234_84+237del
ENST00000369550.10:c.84+234_84+237del MANE Select	ENSP00000358563.5:n.84+234_84+237del
ENST00000369550.9:c.84+234_84+237del	ENSP00000358563.5:n.84+234_84+237del
ENST00000413910.5:c.84+234_84+237del	ENSP00000400542.1:n.84+234_84+237del
ENST00000437719.5:c.40+234_40+237del
ENST00000452771.5:c.42+234_42+237del	ENSP00000407325.1:n.42+234_42+237del
ENST00000473552.1:n.137+234_137+237del
ENST00000475423.1:n.432_435del
ENST00000620277.4:c.84+234_84+237del	ENSP00000478387.1:n.84+234_84+237del
NM_001142463.2:c.84+234_84+237del	NP_001135935.1:n.84+234_84+237del
NM_001288747.1:c.84+234_84+237del	NP_001275676.1:n.84+234_84+237del
NM_001363.4:c.84+234_84+237del	NP_001354.1:n.84+234_84+237del
NR_110021.1:n.542_545del
NR_110022.1:n.308+234_308+237del
NR_110023.1:n.308+234_308+237del
NM_001363.5:c.84+234_84+237del MANE Select	NP_001354.1:n.84+234_84+237del
NM_001142463.3:c.84+234_84+237del	NP_001135935.1:n.84+234_84+237del
NR_110021.2:n.420_423del
NR_110022.2:n.186+234_186+237del
NR_110023.2:n.186+234_186+237del
NM_001288747.2:c.84+234_84+237del	NP_001275676.1:n.84+234_84+237del