Canonical Allele Identifier: CA7319927
Gene: UBR7 HGNC NCBI

Linked Data

dbSNP Id: rs751917769
ExAC: 14:93685075 T / TC
gnomAD v2: 14-93685075-T-TC
gnomAD v3: 14-93218729-T-TC
gnomAD v4: 14-93218729-T-TC
MyVariant Identifiers: chr14:g.93685075_93685076insC (hg19) chr14:g.93218729_93218730insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218730dup , CM000676.2:g.93218730dup GRCh38
NC_000014.8:g.93685076dup , CM000676.1:g.93685076dup GRCh37
NC_000014.7:g.92754829dup NCBI36
NG_051089.1:g.16675dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.805dup MANE Select ENSP00000013070.6:p.Leu269ProfsTer6
ENST00000013070.10:c.805dup ENSP00000013070.6:p.Leu269ProfsTer6
ENST00000416753.5:c.577dup ENSP00000391706.2:p.Leu193ProfsTer6
ENST00000553674.1:c.*506dup ENSP00000450470.1:n.*506dup
ENST00000553857.5:c.378+3449dup
ENST00000555329.1:c.50dup
NM_175748.3:c.805dup NP_786924.2:p.Leu269ProfsTer6
NR_038150.1:n.907dup
NM_175748.4:c.805dup MANE Select NP_786924.2:p.Leu269ProfsTer6
NR_038150.2:n.707dup
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