Canonical Allele Identifier: CA705008071

Gene: NUBPL

Linked Data

• ClinVar Variation Id: 2414125
• ClinVar RCV Id: RCV003106458
• dbSNP Id: rs1329972783
• MyVariant Identifiers: chr14:g.32295928_32295935del (hg19) ; chr14:g.31826722_31826729del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.31826724_31826731del , CM000676.2:g.31826724_31826731del	GRCh38
NC_000014.8:g.32295930_32295937del , CM000676.1:g.32295930_32295937del	GRCh37
NC_000014.7:g.31365681_31365688del	NCBI36
NG_028349.1:g.270340_270347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281081.12:c.693+10_693+17del MANE Select	ENSP00000281081.7:n.693+10_693+17del
ENST00000281081.11:c.693+10_693+17del	ENSP00000281081.7:n.693+10_693+17del
ENST00000418681.6:n.415+10_415+17del
ENST00000547839.5:c.*77+10_*77+17del	ENSP00000449918.1:n.*77+10_*77+17del
ENST00000550649.5:c.292-19747_292-19740del	ENSP00000447618.1:n.292-19747_292-19740del
ENST00000551015.1:n.407+10_407+17del
NM_001201573.1:c.405+10_405+17del	NP_001188502.1:n.405+10_405+17del
NM_001201574.1:c.144+10_144+17del	NP_001188503.1:n.144+10_144+17del
NM_025152.2:c.693+10_693+17del	NP_079428.2:n.693+10_693+17del
NR_120408.1:n.654+10_654+17del
XM_011537181.1:c.378+10_378+17del	XP_011535483.1:n.378+10_378+17del
XM_011537182.1:c.303+10_303+17del	XP_011535484.1:n.303+10_303+17del
XM_011537184.1:c.144+10_144+17del	XP_011535486.1:n.144+10_144+17del
XM_011537181.2:c.378+10_378+17del	XP_011535483.1:n.378+10_378+17del
XM_011537182.2:c.303+10_303+17del	XP_011535484.1:n.303+10_303+17del
XM_011537184.3:c.144+10_144+17del	XP_011535486.1:n.144+10_144+17del
XM_017021667.1:c.270+10_270+17del	XP_016877156.1:n.270+10_270+17del
NM_025152.3:c.693+10_693+17del MANE Select	NP_079428.2:n.693+10_693+17del
NR_120408.2:n.635+10_635+17del
NM_001201573.2:c.405+10_405+17del	NP_001188502.1:n.405+10_405+17del
NM_001201574.2:c.144+10_144+17del	NP_001188503.1:n.144+10_144+17del