Canonical Allele Identifier: CA1773116373
Gene: NUGGC HGNC NCBI

Linked Data

dbSNP Id: rs1810427107

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.28065848_28065850del , CM000670.2:g.28065848_28065850del GRCh38
NC_000008.10:g.27923365_27923367del , CM000670.1:g.27923365_27923367del GRCh37
NC_000008.9:g.27979284_27979286del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000413272.7:c.712-1115_712-1113del MANE Select ENSP00000408697.2:n.712-1115_712-1113del
ENST00000413272.6:c.712-1115_712-1113del ENSP00000408697.2:n.712-1115_712-1113del
NM_001010906.1:c.712-1115_712-1113del NP_001010906.1:n.712-1115_712-1113del
XM_011544523.1:c.784-1115_784-1113del XP_011542825.1:n.784-1115_784-1113del
XM_011544524.1:c.784-1115_784-1113del XP_011542826.1:n.784-1115_784-1113del
XM_011544526.1:c.784-1115_784-1113del XP_011542828.1:n.784-1115_784-1113del
XM_011544523.2:c.784-1115_784-1113del XP_011542825.1:n.784-1115_784-1113del
XM_011544524.3:c.784-1115_784-1113del XP_011542826.1:n.784-1115_784-1113del
XM_011544526.2:c.784-1115_784-1113del XP_011542828.1:n.784-1115_784-1113del
XM_017013403.1:c.784-1115_784-1113del XP_016868892.1:n.784-1115_784-1113del
NM_001010906.2:c.712-1115_712-1113del MANE Select NP_001010906.1:n.712-1115_712-1113del