Canonical Allele Identifier: CA2172970248

Gene: UBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42958291_42958302delinsAACTTAACTTCC , CM000677.2:g.42958291_42958302delinsAACTTAACTTCC	GRCh38
NC_000015.9:g.43250489_43250500delinsAACTTAACTTCC , CM000677.1:g.43250489_43250500delinsAACTTAACTTCC	GRCh37
NC_000015.8:g.41037781_41037792delinsAACTTAACTTCC	NCBI36
NG_012182.1:g.152787_152798delinsGGAAGTTAAGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290650.9:c.4758-212_4758-201delinsGGAAGTTAAGTT MANE Select	ENSP00000290650.4:n.4758-212_4758-201delinsGGAAGTTAAGTT
ENST00000290650.8:c.4758-212_4758-201delinsGGAAGTTAAGTT	ENSP00000290650.4:n.4758-212_4758-201delinsGGAAGTTAAGTT
NM_174916.2:c.4758-212_4758-201delinsGGAAGTTAAGTT	NP_777576.1:n.4758-212_4758-201delinsGGAAGTTAAGTT
NM_174916.3:c.4758-212_4758-201delinsGGAAGTTAAGTT MANE Select	NP_777576.1:n.4758-212_4758-201delinsGGAAGTTAAGTT