Canonical Allele Identifier: CA487593971

Gene: UBR7

Linked Data

• dbSNP Id: rs11441325
• gnomAD v2: 14-93684757-T-TAA
• gnomAD v3: 14-93218411-T-TAA
• gnomAD v4: 14-93218411-T-TAA
• MyVariant Identifiers: chr14:g.93684758_93684759insAA (hg19) ; chr14:g.93684757_93684758insAA (hg19) ; chr14:g.93218412_93218413insAA (hg38) ; chr14:g.93218411_93218412insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218422_93218423dup , CM000676.2:g.93218422_93218423dup	GRCh38
NC_000014.8:g.93684768_93684769dup , CM000676.1:g.93684768_93684769dup	GRCh37
NC_000014.7:g.92754521_92754522dup	NCBI36
NG_051089.1:g.16367_16368dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.602-105_602-104dup MANE Select	ENSP00000013070.6:n.602-105_602-104dup
ENST00000013070.10:c.602-105_602-104dup	ENSP00000013070.6:n.602-105_602-104dup
ENST00000416753.5:c.374-105_374-104dup	ENSP00000391706.2:n.374-105_374-104dup
ENST00000553674.1:c.*303-105_*303-104dup	ENSP00000450470.1:n.*303-105_*303-104dup
ENST00000553857.5:c.378+3141_378+3142dup
ENST00000554232.5:c.506-105_506-104dup	ENSP00000450645.1:n.506-105_506-104dup
ENST00000556871.5:c.311-105_311-104dup	ENSP00000451022.1:n.311-105_311-104dup
ENST00000557048.1:n.511-105_511-104dup
NM_175748.3:c.602-105_602-104dup	NP_786924.2:n.602-105_602-104dup
NR_038150.1:n.704-105_704-104dup
NM_175748.4:c.602-105_602-104dup MANE Select	NP_786924.2:n.602-105_602-104dup
NR_038150.2:n.504-105_504-104dup