Canonical Allele Identifier: CA617633935

Gene: UBR1

Linked Data

• gnomAD v2: 15-43340523-T-TAA
• MyVariant Identifiers: chr15:g.43340523_43340524insAA (hg19) ; chr15:g.43048325_43048326insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43048329_43048330dup , CM000677.2:g.43048329_43048330dup	GRCh38
NC_000015.9:g.43340527_43340528dup , CM000677.1:g.43340527_43340528dup	GRCh37
NC_000015.8:g.41127819_41127820dup	NCBI36
NG_012182.1:g.62762_62763dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000290650.9:c.1539+65_1539+66dup MANE Select	ENSP00000290650.4:n.1539+65_1539+66dup
ENST00000290650.8:c.1539+65_1539+66dup	ENSP00000290650.4:n.1539+65_1539+66dup
ENST00000546274.6:c.1539+65_1539+66dup	ENSP00000477932.1:n.1539+65_1539+66dup
ENST00000563239.1:c.*203-1038_*203-1037dup	ENSP00000456502.1:n.*203-1038_*203-1037du...
ENST00000569971.5:c.410+65_410+66dup	ENSP00000455759.1:n.410+65_410+66dup
NM_174916.2:c.1539+65_1539+66dup	NP_777576.1:n.1539+65_1539+66dup
NM_174916.3:c.1539+65_1539+66dup MANE Select	NP_777576.1:n.1539+65_1539+66dup