Canonical Allele Identifier: CA258995268

Gene: NUBPL

Linked Data

• dbSNP Id: rs549554974
• gnomAD v3: 14-31624266-ATATAT-A
• gnomAD v4: 14-31624266-ATATAT-A
• MyVariant Identifiers: chr14:g.32093473_32093477del (hg19) ; chr14:g.31624267_31624271del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.31624270_31624274del , CM000676.2:g.31624270_31624274del	GRCh38
NC_000014.8:g.32093476_32093480del , CM000676.1:g.32093476_32093480del	GRCh37
NC_000014.7:g.31163227_31163231del	NCBI36
NG_028349.1:g.67886_67890del

Transcript Alleles

HGVS	Amino-acid change
ENST00000281081.12:c.382+24891_382+24895del MANE Select	ENSP00000281081.7:n.382+24891_382+24895de...
ENST00000281081.11:c.382+24891_382+24895del	ENSP00000281081.7:n.382+24891_382+24895de...
ENST00000547839.5:c.382+24891_382+24895del	ENSP00000449918.1:n.382+24891_382+24895de...
ENST00000548937.5:n.386+24891_386+24895del
ENST00000549838.5:c.346+24891_346+24895del	ENSP00000447658.1:n.346+24891_346+24895de...
ENST00000550355.1:n.331+24891_331+24895del
ENST00000550649.5:c.291+59222_291+59226del	ENSP00000447618.1:n.291+59222_291+59226de...
ENST00000551314.1:c.226+24891_226+24895del	ENSP00000447234.1:n.226+24891_226+24895de...
ENST00000552489.5:c.476+24891_476+24895del	ENSP00000447316.1:n.476+24891_476+24895de...
NM_001201573.1:c.94+24891_94+24895del	NP_001188502.1:n.94+24891_94+24895del
NM_025152.2:c.382+24891_382+24895del	NP_079428.2:n.382+24891_382+24895del
NR_120408.1:n.437+24891_437+24895del
XM_005268099.3:c.382+24891_382+24895del	XP_005268156.1:n.382+24891_382+24895del
XM_011537181.1:c.107+24891_107+24895del	XP_011535483.1:n.107+24891_107+24895del
XM_011537182.1:c.-74+24891_-74+24895del	XP_011535484.1:n.-74+24891_-74+24895del
XM_011537183.1:c.382+24891_382+24895del	XP_011535485.1:n.382+24891_382+24895del
XM_011537181.2:c.107+24891_107+24895del	XP_011535483.1:n.107+24891_107+24895del
XM_011537182.2:c.-74+24891_-74+24895del	XP_011535484.1:n.-74+24891_-74+24895del
XM_011537183.2:c.382+24891_382+24895del	XP_011535485.1:n.382+24891_382+24895del
XM_017021664.1:c.382+24891_382+24895del	XP_016877153.1:n.382+24891_382+24895del
XM_017021665.2:c.382+24891_382+24895del	XP_016877154.1:n.382+24891_382+24895del
XM_017021666.1:c.382+24891_382+24895del	XP_016877155.1:n.382+24891_382+24895del
XM_017021667.1:c.-2+24891_-2+24895del	XP_016877156.1:n.-2+24891_-2+24895del
NM_025152.3:c.382+24891_382+24895del MANE Select	NP_079428.2:n.382+24891_382+24895del
NR_120408.2:n.418+24891_418+24895del
NM_001201573.2:c.94+24891_94+24895del	NP_001188502.1:n.94+24891_94+24895del