Canonical Allele Identifier: CA2426745223

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949781_43949784delinsCACA , CM000685.2:g.43949781_43949784delinsCACA GRCh38
NC_000023.10:g.43809027_43809030delinsCACA , CM000685.1:g.43809027_43809030delinsCACA GRCh37
NC_000023.9:g.43693971_43693974delinsCACA NCBI36
NG_009832.1:g.28892_28895delinsTGTG

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.*15_*18delinsTGTG (NDP) MANE Select ENSP00000495972.1:n.*15_*18delinsTGTG
ENST00000647044.1:c.*15_*18delinsTGTG (NDP) ENSP00000495811.1:n.*15_*18delinsTGTG
ENST00000378062.5:c.*15_*18delinsTGTG (NDP) ENSP00000367301.5:n.*15_*18delinsTGTG
ENST00000470584.1:n.461_464delinsTGTG (NDP)
NM_000266.3:c.*15_*18delinsTGTG (NDP) NP_000257.1:n.*15_*18delinsTGTG
NR_046631.1:n.50_53delinsCACA (NDP-AS1)
NM_000266.4:c.*15_*18delinsTGTG (NDP) MANE Select NP_000257.1:n.*15_*18delinsTGTG