Canonical Allele Identifier: CA850468100

Gene: NUGGC

Linked Data

• dbSNP Id: rs1250512685
• gnomAD v3: 8-28065994-TAGA-T
• gnomAD v4: 8-28065994-TAGA-T
• MyVariant Identifiers: chr8:g.27923512_27923514del (hg19) ; chr8:g.28065995_28065997del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28065997_28065999del , CM000670.2:g.28065997_28065999del	GRCh38
NC_000008.10:g.27923514_27923516del , CM000670.1:g.27923514_27923516del	GRCh37
NC_000008.9:g.27979433_27979435del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413272.7:c.712-1266_712-1264del MANE Select	ENSP00000408697.2:n.712-1266_712-1264del
ENST00000413272.6:c.712-1266_712-1264del	ENSP00000408697.2:n.712-1266_712-1264del
NM_001010906.1:c.712-1266_712-1264del	NP_001010906.1:n.712-1266_712-1264del
XM_011544523.1:c.784-1266_784-1264del	XP_011542825.1:n.784-1266_784-1264del
XM_011544524.1:c.784-1266_784-1264del	XP_011542826.1:n.784-1266_784-1264del
XM_011544526.1:c.784-1266_784-1264del	XP_011542828.1:n.784-1266_784-1264del
XM_011544523.2:c.784-1266_784-1264del	XP_011542825.1:n.784-1266_784-1264del
XM_011544524.3:c.784-1266_784-1264del	XP_011542826.1:n.784-1266_784-1264del
XM_011544526.2:c.784-1266_784-1264del	XP_011542828.1:n.784-1266_784-1264del
XM_017013403.1:c.784-1266_784-1264del	XP_016868892.1:n.784-1266_784-1264del
NM_001010906.2:c.712-1266_712-1264del MANE Select	NP_001010906.1:n.712-1266_712-1264del