Canonical Allele Identifier: CA2695233476

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949911dup , CM000685.2:g.43949911dup GRCh38
NC_000023.10:g.43809157dup , CM000685.1:g.43809157dup GRCh37
NC_000023.9:g.43694101dup NCBI36
NG_009832.1:g.28766dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.291dup (NDP) MANE Select ENSP00000495972.1:p.Pro98AlafsTer?
ENST00000647044.1:c.291dup (NDP) ENSP00000495811.1:p.Pro98AlafsTer?
ENST00000378062.5:c.291dup (NDP) ENSP00000367301.5:p.Pro98AlafsTer?
ENST00000470584.1:n.335dup (NDP)
NM_000266.3:c.291dup (NDP) NP_000257.1:p.Pro98AlafsTer?
NR_046631.1:n.180dup (NDP-AS1)
NM_000266.4:c.291dup (NDP) MANE Select NP_000257.1:p.Pro98AlafsTer?