Canonical Allele Identifier: CA1138598202

Gene: DKC1

Linked Data

• gnomAD v3: X-154765101-AGCACTG-A
• gnomAD v4: X-154765101-AGCACTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154765102_154765107del , CM000685.2:g.154765102_154765107del	GRCh38
NC_000023.10:g.153993377_153993382del , CM000685.1:g.153993377_153993382del	GRCh37
NC_000023.9:g.153646571_153646576del	NCBI36
NG_009780.1:g.7347_7352del , LRG_55:g.7347_7352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.84+136_84+141del	ENSP00000400542.2:n.84+136_84+141del
ENST00000426673.6:c.84+136_84+141del	ENSP00000407253.3:n.84+136_84+141del
ENST00000696575.1:c.84+136_84+141del	ENSP00000512730.1:n.84+136_84+141del
ENST00000696576.1:n.186+136_186+141del
ENST00000696577.1:c.84+136_84+141del	ENSP00000512731.1:n.84+136_84+141del
ENST00000696578.1:c.84+136_84+141del	ENSP00000512732.1:n.84+136_84+141del
ENST00000696579.1:n.186+136_186+141del
ENST00000696580.1:c.84+136_84+141del	ENSP00000512733.1:n.84+136_84+141del
ENST00000696581.1:c.84+136_84+141del	ENSP00000512734.1:n.84+136_84+141del
ENST00000696582.1:c.84+136_84+141del	ENSP00000512735.1:n.84+136_84+141del
ENST00000696583.1:c.84+136_84+141del	ENSP00000512736.1:n.84+136_84+141del
ENST00000696584.1:n.267_272del
ENST00000696585.1:n.131+136_131+141del
ENST00000696586.1:n.131+136_131+141del
ENST00000696587.1:c.84+136_84+141del	ENSP00000512737.1:n.84+136_84+141del
ENST00000696588.1:c.-867_-862del	ENSP00000513251.1:n.-867_-862del
ENST00000696627.1:c.84+136_84+141del	ENSP00000512764.1:n.84+136_84+141del
ENST00000696628.1:c.84+136_84+141del	ENSP00000512765.1:n.84+136_84+141del
ENST00000369550.10:c.84+136_84+141del MANE Select	ENSP00000358563.5:n.84+136_84+141del
ENST00000369550.9:c.84+136_84+141del	ENSP00000358563.5:n.84+136_84+141del
ENST00000413910.5:c.84+136_84+141del	ENSP00000400542.1:n.84+136_84+141del
ENST00000437719.5:c.40+136_40+141del
ENST00000452771.5:c.42+136_42+141del	ENSP00000407325.1:n.42+136_42+141del
ENST00000473552.1:n.137+136_137+141del
ENST00000475423.1:n.334_339del
ENST00000620277.4:c.84+136_84+141del	ENSP00000478387.1:n.84+136_84+141del
NM_001142463.2:c.84+136_84+141del	NP_001135935.1:n.84+136_84+141del
NM_001288747.1:c.84+136_84+141del	NP_001275676.1:n.84+136_84+141del
NM_001363.4:c.84+136_84+141del	NP_001354.1:n.84+136_84+141del
NR_110021.1:n.444_449del
NR_110022.1:n.308+136_308+141del
NR_110023.1:n.308+136_308+141del
NM_001363.5:c.84+136_84+141del MANE Select	NP_001354.1:n.84+136_84+141del
NM_001142463.3:c.84+136_84+141del	NP_001135935.1:n.84+136_84+141del
NR_110021.2:n.322_327del
NR_110022.2:n.186+136_186+141del
NR_110023.2:n.186+136_186+141del
NM_001288747.2:c.84+136_84+141del	NP_001275676.1:n.84+136_84+141del