Canonical Allele Identifier: CA7147719

Gene: NUBPL

Linked Data

• ClinVar Variation Id: 506348
• ClinVar RCV Id: RCV000615165 ; RCV002529369
• dbSNP Id: rs756690905
• ExAC: 14:32031251 TTTA / T
• gnomAD v2: 14-32031251-TTTA-T
• gnomAD v3: 14-31562045-TTTA-T
• gnomAD v4: 14-31562045-TTTA-T
• MyVariant Identifiers: chr14:g.32031263_32031265del (hg19) ; chr14:g.32031252_32031254del (hg19) ; chr14:g.31562057_31562059del (hg38) ; chr14:g.31562046_31562048del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.31562057_31562059del , CM000676.2:g.31562057_31562059del	GRCh38
NC_000014.8:g.32031263_32031265del , CM000676.1:g.32031263_32031265del	GRCh37
NC_000014.7:g.31101014_31101016del	NCBI36
NG_028349.1:g.5673_5675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281081.12:c.109-11_109-9del MANE Select	ENSP00000281081.7:n.109-11_109-9del
ENST00000281081.11:c.109-11_109-9del	ENSP00000281081.7:n.109-11_109-9del
ENST00000547839.5:c.109-11_109-9del	ENSP00000449918.1:n.109-11_109-9del
ENST00000548937.5:n.113-11_113-9del
ENST00000549838.5:c.73-11_73-9del	ENSP00000447658.1:n.73-11_73-9del
ENST00000550005.1:c.34-11_34-9del	ENSP00000446511.1:n.34-11_34-9del
ENST00000550355.1:n.58-11_58-9del
ENST00000550649.5:c.109-11_109-9del	ENSP00000447618.1:n.109-11_109-9del
ENST00000551314.1:c.-48-11_-48-9del	ENSP00000447234.1:n.-48-11_-48-9del
ENST00000552489.5:c.109-11_109-9del	ENSP00000447316.1:n.109-11_109-9del
NM_025152.2:c.109-11_109-9del	NP_079428.2:n.109-11_109-9del
NR_120408.1:n.164-11_164-9del
XM_005268099.3:c.109-11_109-9del	XP_005268156.1:n.109-11_109-9del
XM_011537182.1:c.-347-11_-347-9del	XP_011535484.1:n.-347-11_-347-9del
XM_011537183.1:c.109-11_109-9del	XP_011535485.1:n.109-11_109-9del
XM_011537182.2:c.-347-11_-347-9del	XP_011535484.1:n.-347-11_-347-9del
XM_011537183.2:c.109-11_109-9del	XP_011535485.1:n.109-11_109-9del
XM_017021664.1:c.109-11_109-9del	XP_016877153.1:n.109-11_109-9del
XM_017021665.2:c.109-11_109-9del	XP_016877154.1:n.109-11_109-9del
XM_017021666.1:c.109-11_109-9del	XP_016877155.1:n.109-11_109-9del
XM_017021667.1:c.-275-11_-275-9del	XP_016877156.1:n.-275-11_-275-9del
NM_025152.3:c.109-11_109-9del MANE Select	NP_079428.2:n.109-11_109-9del
NR_120408.2:n.145-11_145-9del