Canonical Allele Identifier: CA609612198
Gene: KPNA3 HGNC NCBI

Linked Data

dbSNP Id: rs1470641349
gnomAD v2: 13-50306259-ATAAGT-A
gnomAD v3: 13-49732123-ATAAGT-A
gnomAD v4: 13-49732123-ATAAGT-A
MyVariant Identifiers: chr13:g.50306260_50306264del (hg19) chr13:g.49732124_49732128del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.49732127_49732131del , CM000675.2:g.49732127_49732131del GRCh38
NC_000013.10:g.50306263_50306267del , CM000675.1:g.50306263_50306267del GRCh37
NC_000013.9:g.49204264_49204268del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261667.8:c.383+243_383+247del MANE Select ENSP00000261667.3:n.383+243_383+247del
ENST00000261667.7:c.383+243_383+247del ENSP00000261667.3:n.383+243_383+247del
NM_002267.3:c.383+243_383+247del NP_002258.2:n.383+243_383+247del
XM_017020561.1:c.311+243_311+247del XP_016876050.1:n.311+243_311+247del
NM_002267.4:c.383+243_383+247del MANE Select NP_002258.2:n.383+243_383+247del
Search 100 bp 5'
Search 100 bp 3'