Canonical Allele Identifier: CA2580100956

Linked Data

ClinVar Variation Id: 1701597
ClinVar RCV Id: RCV002276470
dbSNP Id: rs2147204771

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949923_43949925delinsTAT , CM000685.2:g.43949923_43949925delinsTAT GRCh38
NC_000023.10:g.43809169_43809171delinsTAT , CM000685.1:g.43809169_43809171delinsTAT GRCh37
NC_000023.9:g.43694113_43694115delinsTAT NCBI36
NG_009832.1:g.28751_28753delinsATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.276_278delinsATA (NDP) MANE Select ENSP00000495972.1:p.Cys93Tyr
ENST00000647044.1:c.276_278delinsATA (NDP) ENSP00000495811.1:p.Cys93Tyr
ENST00000378062.5:c.276_278delinsATA (NDP) ENSP00000367301.5:p.Cys93Tyr
ENST00000470584.1:n.320_322delinsATA (NDP)
NM_000266.3:c.276_278delinsATA (NDP) NP_000257.1:p.Cys93Tyr
NR_046631.1:n.192_194delinsTAT (NDP-AS1)
NM_000266.4:c.276_278delinsATA (NDP) MANE Select NP_000257.1:p.Cys93Tyr