Canonical Allele Identifier: CA2820657050

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43950071_43950072insACAA , CM000685.2:g.43950071_43950072insACAA GRCh38
NC_000023.10:g.43809317_43809318insACAA , CM000685.1:g.43809317_43809318insACAA GRCh37
NC_000023.9:g.43694261_43694262insACAA NCBI36
NG_009832.1:g.28604_28605insTTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.175-46_175-45insTTGT (NDP) MANE Select ENSP00000495972.1:n.175-46_175-45insTTGT
ENST00000647044.1:c.175-46_175-45insTTGT (NDP) ENSP00000495811.1:n.175-46_175-45insTTGT
ENST00000378062.5:c.175-46_175-45insTTGT (NDP) ENSP00000367301.5:n.175-46_175-45insTTGT
ENST00000470584.1:n.219-46_219-45insTTGT (NDP)
NM_000266.3:c.175-46_175-45insTTGT (NDP) NP_000257.1:n.175-46_175-45insTTGT
NR_046631.1:n.340_341insACAA (NDP-AS1)
NM_000266.4:c.175-46_175-45insTTGT (NDP) MANE Select NP_000257.1:n.175-46_175-45insTTGT