Canonical Allele Identifier: CA2648266368
Gene: PKLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290218_155290219insT , CM000663.2:g.155290218_155290219insT GRCh38
NC_000001.10:g.155260009_155260010insT , CM000663.1:g.155260009_155260010insT GRCh37
NC_000001.9:g.153526633_153526634insT NCBI36
NG_011677.1:g.16216_16217insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*353_*354insA MANE Select ENSP00000339933.4:n.*353_*354insA
ENST00000392414.7:c.*353_*354insA ENSP00000376214.3:n.*353_*354insA
NM_000298.5:c.*353_*354insA NP_000289.1:n.*353_*354insA
NM_181871.3:c.*353_*354insA NP_870986.1:n.*353_*354insA
NM_000298.6:c.*353_*354insA MANE Select NP_000289.1:n.*353_*354insA
NM_181871.4:c.*353_*354insA NP_870986.1:n.*353_*354insA