Canonical Allele Identifier: CA2466787211

Gene: DKC1

Linked Data

• dbSNP Id: rs782491644
• gnomAD v4: X-154773284-CTTTTTTTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773297_154773306del , CM000685.2:g.154773297_154773306del	GRCh38
NC_000023.10:g.154001572_154001581del , CM000685.1:g.154001572_154001581del	GRCh37
NC_000023.9:g.153654766_153654775del	NCBI36
NG_009780.1:g.15542_15551del , LRG_55:g.15542_15551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1035+48_1035+57del	ENSP00000400542.2:n.1035+48_1035+57del
ENST00000426673.6:c.*538+48_*538+57del	ENSP00000407253.3:n.*538+48_*538+57del
ENST00000484317.6:n.940+48_940+57del
ENST00000696575.1:c.1155+48_1155+57del	ENSP00000512730.1:n.1155+48_1155+57del
ENST00000696577.1:c.1155+48_1155+57del	ENSP00000512731.1:n.1155+48_1155+57del
ENST00000696578.1:c.*107+48_*107+57del	ENSP00000512732.1:n.*107+48_*107+57del
ENST00000696579.1:n.1257+48_1257+57del
ENST00000696580.1:c.1068+48_1068+57del	ENSP00000512733.1:n.1068+48_1068+57del
ENST00000696581.1:c.*1129+48_*1129+57del	ENSP00000512734.1:n.*1129+48_*1129+57del
ENST00000696582.1:c.*361+48_*361+57del	ENSP00000512735.1:n.*361+48_*361+57del
ENST00000696583.1:c.1116+48_1116+57del	ENSP00000512736.1:n.1116+48_1116+57del
ENST00000696584.1:n.1679+48_1679+57del
ENST00000696585.1:n.1798+48_1798+57del
ENST00000696586.1:n.1572+48_1572+57del
ENST00000696587.1:c.1035+48_1035+57del	ENSP00000512737.1:n.1035+48_1035+57del
ENST00000696588.1:c.546+48_546+57del	ENSP00000513251.1:n.546+48_546+57del
ENST00000696589.1:n.930+48_930+57del
ENST00000696590.1:n.779+48_779+57del
ENST00000696591.1:n.504+48_504+57del
ENST00000696592.1:n.2034+48_2034+57del
ENST00000696627.1:c.1159+44_1159+53del	ENSP00000512764.1:n.1159+44_1159+53del
ENST00000696628.1:c.1155+48_1155+57del	ENSP00000512765.1:n.1155+48_1155+57del
ENST00000369550.10:c.1155+48_1155+57del MANE Select	ENSP00000358563.5:n.1155+48_1155+57del
ENST00000369550.9:c.1155+48_1155+57del	ENSP00000358563.5:n.1155+48_1155+57del
ENST00000412124.5:c.413+48_413+57del
ENST00000426673.5:c.515+48_515+57del
ENST00000475966.1:n.644+48_644+57del
ENST00000481062.1:n.106+48_106+57del
ENST00000620277.4:c.1155+48_1155+57del	ENSP00000478387.1:n.1155+48_1155+57del
NM_001142463.2:c.1155+48_1155+57del	NP_001135935.1:n.1155+48_1155+57del
NM_001288747.1:c.1155+48_1155+57del	NP_001275676.1:n.1155+48_1155+57del
NM_001363.4:c.1155+48_1155+57del	NP_001354.1:n.1155+48_1155+57del
NR_110021.1:n.1856+48_1856+57del
NR_110022.1:n.1975+48_1975+57del
NR_110023.1:n.1749+48_1749+57del
NM_001363.5:c.1155+48_1155+57del MANE Select	NP_001354.1:n.1155+48_1155+57del
NM_001142463.3:c.1155+48_1155+57del	NP_001135935.1:n.1155+48_1155+57del
NR_110021.2:n.1734+48_1734+57del
NR_110022.2:n.1853+48_1853+57del
NR_110023.2:n.1627+48_1627+57del
NM_001288747.2:c.1155+48_1155+57del	NP_001275676.1:n.1155+48_1155+57del