Canonical Allele Identifier: CA16617126
Gene: HNRNPU HGNC NCBI

Linked Data

ClinVar Variation Id: 423944
ClinVar RCV Id: RCV000485202 RCV002525956
dbSNP Id: rs1064796710
MyVariant Identifiers: chr1:g.245022146_245022150del (hg19) chr1:g.244858844_244858848del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.244858846_244858850del , CM000663.2:g.244858846_244858850del GRCh38
NC_000001.10:g.245022148_245022152del , CM000663.1:g.245022148_245022152del GRCh37
NC_000001.9:g.243088771_243088775del NCBI36
NG_042184.1:g.10678_10682del

Transcript Alleles

HGVS Amino-acid change
ENST00000639628.2:c.290-7_290-3del ENSP00000491340.1:n.290-7_290-3del
ENST00000704074.1:c.739-7_739-3del
ENST00000283179.14:c.875-7_875-3del ENSP00000283179.10:n.875-7_875-3del
ENST00000366525.8:n.731-7_731-3del
ENST00000440865.2:c.449-7_449-3del ENSP00000410728.2:n.449-7_449-3del
ENST00000444376.7:c.1061-7_1061-3del ENSP00000393151.2:n.1061-7_1061-3del
ENST00000465881.2:n.515-7_515-3del
ENST00000468690.2:n.1171_1175del
ENST00000476241.2:n.3232-7_3232-3del
ENST00000483966.3:c.101-7_101-3del ENSP00000492573.1:n.101-7_101-3del
ENST00000638230.1:c.228-7_228-3del
ENST00000638301.1:c.290-7_290-3del ENSP00000491807.1:n.290-7_290-3del
ENST00000638475.1:c.827-7_827-3del ENSP00000491305.1:n.827-7_827-3del
ENST00000638589.1:n.1432-7_1432-3del
ENST00000638716.1:c.290-13_290-9del ENSP00000491601.1:n.290-13_290-9del
ENST00000638952.1:n.3335-7_3335-3del
ENST00000639628.1:c.290-7_290-3del ENSP00000491340.1:n.290-7_290-3del
ENST00000639667.1:n.3108-7_3108-3del
ENST00000639880.1:c.*54-7_*54-3del ENSP00000490988.1:n.*54-7_*54-3del
ENST00000640001.1:c.290-7_290-3del ENSP00000491294.1:n.290-7_290-3del
ENST00000640056.1:c.441-7_441-3del ENSP00000492620.1:n.441-7_441-3del
ENST00000640218.2:c.1118-7_1118-3del MANE Select ENSP00000491215.1:n.1118-7_1118-3del
ENST00000640306.1:c.1061-7_1061-3del ENSP00000491685.1:n.1061-7_1061-3del
ENST00000640440.1:c.649-7_649-3del ENSP00000491263.1:n.649-7_649-3del
ENST00000649899.1:n.1285-7_1285-3del
ENST00000283179.13:c.1118-7_1118-3del ENSP00000283179.9:n.1118-7_1118-3del
ENST00000366525.7:n.858-7_858-3del
ENST00000440865.1:c.449-7_449-3del ENSP00000410728.1:n.449-7_449-3del
ENST00000444376.6:c.1061-7_1061-3del ENSP00000393151.2:n.1061-7_1061-3del
ENST00000465881.1:n.500_504del
NM_004501.3:c.1061-7_1061-3del NP_004492.2:n.1061-7_1061-3del
NM_031844.2:c.1118-7_1118-3del NP_114032.2:n.1118-7_1118-3del
NM_031844.3:c.1118-7_1118-3del MANE Select NP_114032.2:n.1118-7_1118-3del
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