Canonical Allele Identifier: CA2648266348
Gene: PKLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290194_155290195insTTATA , CM000663.2:g.155290194_155290195insTTATA GRCh38
NC_000001.10:g.155259985_155259986insTTATA , CM000663.1:g.155259985_155259986insTTATA GRCh37
NC_000001.9:g.153526609_153526610insTTATA NCBI36
NG_011677.1:g.16240_16241insTATAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*377_*378insTATAA MANE Select ENSP00000339933.4:n.*377_*378insTATAA
ENST00000392414.7:c.*377_*378insTATAA ENSP00000376214.3:n.*377_*378insTATAA
NM_000298.5:c.*377_*378insTATAA NP_000289.1:n.*377_*378insTATAA
NM_181871.3:c.*377_*378insTATAA NP_870986.1:n.*377_*378insTATAA
NM_000298.6:c.*377_*378insTATAA MANE Select NP_000289.1:n.*377_*378insTATAA
NM_181871.4:c.*377_*378insTATAA NP_870986.1:n.*377_*378insTATAA