Canonical Allele Identifier: CA2580100943

Linked Data

ClinVar Variation Id: 1705321
ClinVar RCV Id: RCV002283635

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43958515_43958516del , CM000685.2:g.43958515_43958516del GRCh38
NC_000023.10:g.43817761_43817762del , CM000685.1:g.43817761_43817762del GRCh37
NC_000023.9:g.43702705_43702706del NCBI36
NG_009832.1:g.20161_20162del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.131_132del (NDP) MANE Select ENSP00000495972.1:p.Tyr44CysfsTer12
ENST00000647044.1:c.131_132del (NDP) ENSP00000495811.1:p.Tyr44CysfsTer12
ENST00000378062.5:c.131_132del (NDP) ENSP00000367301.5:p.Tyr44CysfsTer12
ENST00000470584.1:n.218+203_218+204del (NDP)
NM_000266.3:c.131_132del (NDP) NP_000257.1:p.Tyr44CysfsTer12
NR_046631.1:n.467-2270_467-2269del (NDP-AS1)
NM_000266.4:c.131_132del (NDP) MANE Select NP_000257.1:p.Tyr44CysfsTer12