Canonical Allele Identifier: CA2602719273

Gene: DKC1

Linked Data

• dbSNP Id: rs2148515217
• gnomAD v3: X-154773302-TTTTTA-T
• gnomAD v4: X-154773302-TTTTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773303_154773307del , CM000685.2:g.154773303_154773307del	GRCh38
NC_000023.10:g.154001578_154001582del , CM000685.1:g.154001578_154001582del	GRCh37
NC_000023.9:g.153654772_153654776del	NCBI36
NG_009780.1:g.15548_15552del , LRG_55:g.15548_15552del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1035+54_1035+58del	ENSP00000400542.2:n.1035+54_1035+58del
ENST00000426673.6:c.*538+54_*538+58del	ENSP00000407253.3:n.*538+54_*538+58del
ENST00000484317.6:n.940+54_940+58del
ENST00000696575.1:c.1155+54_1155+58del	ENSP00000512730.1:n.1155+54_1155+58del
ENST00000696577.1:c.1155+54_1155+58del	ENSP00000512731.1:n.1155+54_1155+58del
ENST00000696578.1:c.*107+54_*107+58del	ENSP00000512732.1:n.*107+54_*107+58del
ENST00000696579.1:n.1257+54_1257+58del
ENST00000696580.1:c.1068+54_1068+58del	ENSP00000512733.1:n.1068+54_1068+58del
ENST00000696581.1:c.*1129+54_*1129+58del	ENSP00000512734.1:n.*1129+54_*1129+58del
ENST00000696582.1:c.*361+54_*361+58del	ENSP00000512735.1:n.*361+54_*361+58del
ENST00000696583.1:c.1116+54_1116+58del	ENSP00000512736.1:n.1116+54_1116+58del
ENST00000696584.1:n.1679+54_1679+58del
ENST00000696585.1:n.1798+54_1798+58del
ENST00000696586.1:n.1572+54_1572+58del
ENST00000696587.1:c.1035+54_1035+58del	ENSP00000512737.1:n.1035+54_1035+58del
ENST00000696588.1:c.546+54_546+58del	ENSP00000513251.1:n.546+54_546+58del
ENST00000696589.1:n.930+54_930+58del
ENST00000696590.1:n.779+54_779+58del
ENST00000696591.1:n.504+54_504+58del
ENST00000696592.1:n.2034+54_2034+58del
ENST00000696627.1:c.1159+50_1159+54del	ENSP00000512764.1:n.1159+50_1159+54del
ENST00000696628.1:c.1155+54_1155+58del	ENSP00000512765.1:n.1155+54_1155+58del
ENST00000369550.10:c.1155+54_1155+58del MANE Select	ENSP00000358563.5:n.1155+54_1155+58del
ENST00000369550.9:c.1155+54_1155+58del	ENSP00000358563.5:n.1155+54_1155+58del
ENST00000412124.5:c.413+54_413+58del
ENST00000426673.5:c.515+54_515+58del
ENST00000475966.1:n.644+54_644+58del
ENST00000481062.1:n.106+54_106+58del
ENST00000620277.4:c.1155+54_1155+58del	ENSP00000478387.1:n.1155+54_1155+58del
NM_001142463.2:c.1155+54_1155+58del	NP_001135935.1:n.1155+54_1155+58del
NM_001288747.1:c.1155+54_1155+58del	NP_001275676.1:n.1155+54_1155+58del
NM_001363.4:c.1155+54_1155+58del	NP_001354.1:n.1155+54_1155+58del
NR_110021.1:n.1856+54_1856+58del
NR_110022.1:n.1975+54_1975+58del
NR_110023.1:n.1749+54_1749+58del
NM_001363.5:c.1155+54_1155+58del MANE Select	NP_001354.1:n.1155+54_1155+58del
NM_001142463.3:c.1155+54_1155+58del	NP_001135935.1:n.1155+54_1155+58del
NR_110021.2:n.1734+54_1734+58del
NR_110022.2:n.1853+54_1853+58del
NR_110023.2:n.1627+54_1627+58del
NM_001288747.2:c.1155+54_1155+58del	NP_001275676.1:n.1155+54_1155+58del