Canonical Allele Identifier: CA2695233487

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43958501_43958504del , CM000685.2:g.43958501_43958504del GRCh38
NC_000023.10:g.43817747_43817750del , CM000685.1:g.43817747_43817750del GRCh37
NC_000023.9:g.43702691_43702694del NCBI36
NG_009832.1:g.20172_20175del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.142_145del (NDP) MANE Select ENSP00000495972.1:p.Ile48ValfsTer?
ENST00000647044.1:c.142_145del (NDP) ENSP00000495811.1:p.Ile48ValfsTer?
ENST00000378062.5:c.142_145del (NDP) ENSP00000367301.5:p.Ile48ValfsTer?
ENST00000470584.1:n.218+214_218+217del (NDP)
NM_000266.3:c.142_145del (NDP) NP_000257.1:p.Ile48ValfsTer?
NR_046631.1:n.467-2284_467-2281del (NDP-AS1)
NM_000266.4:c.142_145del (NDP) MANE Select NP_000257.1:p.Ile48ValfsTer?