Canonical Allele Identifier: CA2695161473

Gene: DKC1

Linked Data

• gnomAD v4: X-154773324-GATAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773325_154773328del , CM000685.2:g.154773325_154773328del	GRCh38
NC_000023.10:g.154001600_154001603del , CM000685.1:g.154001600_154001603del	GRCh37
NC_000023.9:g.153654794_153654797del	NCBI36
NG_009780.1:g.15570_15573del , LRG_55:g.15570_15573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1035+76_1035+79del	ENSP00000400542.2:n.1035+76_1035+79del
ENST00000426673.6:c.*538+76_*538+79del	ENSP00000407253.3:n.*538+76_*538+79del
ENST00000484317.6:n.940+76_940+79del
ENST00000696575.1:c.1155+76_1155+79del	ENSP00000512730.1:n.1155+76_1155+79del
ENST00000696577.1:c.1155+76_1155+79del	ENSP00000512731.1:n.1155+76_1155+79del
ENST00000696578.1:c.*107+76_*107+79del	ENSP00000512732.1:n.*107+76_*107+79del
ENST00000696579.1:n.1257+76_1257+79del
ENST00000696580.1:c.1068+76_1068+79del	ENSP00000512733.1:n.1068+76_1068+79del
ENST00000696581.1:c.*1129+76_*1129+79del	ENSP00000512734.1:n.*1129+76_*1129+79del
ENST00000696582.1:c.*361+76_*361+79del	ENSP00000512735.1:n.*361+76_*361+79del
ENST00000696583.1:c.1116+76_1116+79del	ENSP00000512736.1:n.1116+76_1116+79del
ENST00000696584.1:n.1679+76_1679+79del
ENST00000696585.1:n.1798+76_1798+79del
ENST00000696586.1:n.1572+76_1572+79del
ENST00000696587.1:c.1035+76_1035+79del	ENSP00000512737.1:n.1035+76_1035+79del
ENST00000696588.1:c.546+76_546+79del	ENSP00000513251.1:n.546+76_546+79del
ENST00000696589.1:n.930+76_930+79del
ENST00000696590.1:n.779+76_779+79del
ENST00000696591.1:n.504+76_504+79del
ENST00000696592.1:n.2034+76_2034+79del
ENST00000696627.1:c.1159+72_1159+75del	ENSP00000512764.1:n.1159+72_1159+75del
ENST00000696628.1:c.1155+76_1155+79del	ENSP00000512765.1:n.1155+76_1155+79del
ENST00000369550.10:c.1155+76_1155+79del MANE Select	ENSP00000358563.5:n.1155+76_1155+79del
ENST00000369550.9:c.1155+76_1155+79del	ENSP00000358563.5:n.1155+76_1155+79del
ENST00000412124.5:c.413+76_413+79del
ENST00000426673.5:c.515+76_515+79del
ENST00000475966.1:n.644+76_644+79del
ENST00000481062.1:n.106+76_106+79del
ENST00000620277.4:c.1155+76_1155+79del	ENSP00000478387.1:n.1155+76_1155+79del
NM_001142463.2:c.1155+76_1155+79del	NP_001135935.1:n.1155+76_1155+79del
NM_001288747.1:c.1155+76_1155+79del	NP_001275676.1:n.1155+76_1155+79del
NM_001363.4:c.1155+76_1155+79del	NP_001354.1:n.1155+76_1155+79del
NR_110021.1:n.1856+76_1856+79del
NR_110022.1:n.1975+76_1975+79del
NR_110023.1:n.1749+76_1749+79del
NM_001363.5:c.1155+76_1155+79del MANE Select	NP_001354.1:n.1155+76_1155+79del
NM_001142463.3:c.1155+76_1155+79del	NP_001135935.1:n.1155+76_1155+79del
NR_110021.2:n.1734+76_1734+79del
NR_110022.2:n.1853+76_1853+79del
NR_110023.2:n.1627+76_1627+79del
NM_001288747.2:c.1155+76_1155+79del	NP_001275676.1:n.1155+76_1155+79del