Canonical Allele Identifier: CA2695233469

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949817_43949818delinsTT , CM000685.2:g.43949817_43949818delinsTT GRCh38
NC_000023.10:g.43809063_43809064delinsTT , CM000685.1:g.43809063_43809064delinsTT GRCh37
NC_000023.9:g.43694007_43694008delinsTT NCBI36
NG_009832.1:g.28858_28859delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.383_384delinsAA (NDP) MANE Select ENSP00000495972.1:p.Cys128Ter
ENST00000647044.1:c.383_384delinsAA (NDP) ENSP00000495811.1:p.Cys128Ter
ENST00000378062.5:c.383_384delinsAA (NDP) ENSP00000367301.5:p.Cys128Ter
ENST00000470584.1:n.427_428delinsAA (NDP)
NM_000266.3:c.383_384delinsAA (NDP) NP_000257.1:p.Cys128Ter
NR_046631.1:n.86_87delinsTT (NDP-AS1)
NM_000266.4:c.383_384delinsAA (NDP) MANE Select NP_000257.1:p.Cys128Ter