Canonical Allele Identifier: CA16043322
Gene: BRWD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 373083
ClinVar RCV Id: RCV000413023
dbSNP Id: rs1057518202
MyVariant Identifiers: chrX:g.79960297_79960300dupATTT (hg19) chrX:g.79960296_79960297insATTT (hg19) chrX:g.80704798_80704801dupATTT (hg38) chrX:g.80704797_80704798insATTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.80704801_80704804dup , CM000685.2:g.80704801_80704804dup GRCh38
NC_000023.10:g.79960300_79960303dup , CM000685.1:g.79960300_79960303dup GRCh37
NC_000023.9:g.79846956_79846959dup NCBI36
NG_021349.1:g.109934_109937dup

Transcript Alleles

HGVS Amino-acid change
ENST00000373275.5:c.2598_2601dup MANE Select ENSP00000362372.4:p.Leu868LysfsTer15
ENST00000373275.4:c.2598_2601dup ENSP00000362372.4:p.Leu868LysfsTer15
ENST00000473691.1:n.734_737dup
NM_153252.4:c.2598_2601dup NP_694984.4:p.Leu868LysfsTer15
XM_005262113.2:c.2448_2451dup XP_005262170.1:p.Leu818LysfsTer15
XM_011530903.1:c.2085_2088dup XP_011529205.1:p.Leu697LysfsTer15
XM_011530904.1:c.1386_1389dup XP_011529206.1:p.Leu464LysfsTer15
XR_430519.2:n.2861_2864dup
XM_005262113.3:c.2448_2451dup XP_005262170.1:p.Leu818LysfsTer15
XM_017029384.1:c.1386_1389dup XP_016884873.1:p.Leu464LysfsTer15
XM_017029385.2:c.*43_*46dup XP_016884874.1:n.*43_*46dup
XR_430519.3:n.2863_2866dup
NM_153252.5:c.2598_2601dup MANE Select NP_694984.5:p.Leu868LysfsTer15
Search 100 bp 5'
Search 100 bp 3'