Canonical Allele Identifier: CA710048204

Gene: UBR7

Linked Data

• dbSNP Id: rs1361702127
• gnomAD v3: 14-93218454-CTGTT-C
• gnomAD v4: 14-93218454-CTGTT-C
• MyVariant Identifiers: chr14:g.93218455_93218458del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218455_93218458del , CM000676.2:g.93218455_93218458del	GRCh38
NC_000014.8:g.93684801_93684804del , CM000676.1:g.93684801_93684804del	GRCh37
NC_000014.7:g.92754554_92754557del	NCBI36
NG_051089.1:g.16400_16403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.602-72_602-69del MANE Select	ENSP00000013070.6:n.602-72_602-69del
ENST00000013070.10:c.602-72_602-69del	ENSP00000013070.6:n.602-72_602-69del
ENST00000416753.5:c.374-72_374-69del	ENSP00000391706.2:n.374-72_374-69del
ENST00000553674.1:c.*303-72_*303-69del	ENSP00000450470.1:n.*303-72_*303-69del
ENST00000553857.5:c.378+3174_378+3177del
ENST00000554232.5:c.506-72_506-69del	ENSP00000450645.1:n.506-72_506-69del
ENST00000556871.5:c.311-72_311-69del	ENSP00000451022.1:n.311-72_311-69del
ENST00000557048.1:n.511-72_511-69del
NM_175748.3:c.602-72_602-69del	NP_786924.2:n.602-72_602-69del
NR_038150.1:n.704-72_704-69del
NM_175748.4:c.602-72_602-69del MANE Select	NP_786924.2:n.602-72_602-69del
NR_038150.2:n.504-72_504-69del