Canonical Allele Identifier: CA606184003
Gene: LYZ HGNC NCBI

Linked Data

dbSNP Id: rs71094709
gnomAD v2: 12-69747277-C-CTTTTTTTTTTTT
gnomAD v3: 12-69353497-C-CTTTTTTTTTTTT
gnomAD v4: 12-69353497-C-CTTTTTTTTTTTT
MyVariant Identifiers: chr12:g.69747277_69747278insTTTTTTTTTTTT (hg19) chr12:g.69353497_69353498insTTTTTTTTTTTT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.69353508_69353509insTTTTTTTTTTTT , CM000674.2:g.69353508_69353509insTTTTTTTTTTTT GRCh38
NC_000012.11:g.69747288_69747289insTTTTTTTTTTTT , CM000674.1:g.69747288_69747289insTTTTTTTTTTTT GRCh37
NC_000012.10:g.68033555_68033556insTTTTTTTTTTTT NCBI36
NG_008195.1:g.10155_10156insTTTTTTTTTTTT , LRG_768:g.10155_10156insTTTTTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261267.7:c.*289_*290insTTTTTTTTTTTT MANE Select ENSP00000261267.2:n.*289_*290insTTTTTTTTTTTT
ENST00000261267.6:c.*289_*290insTTTTTTTTTTTT ENSP00000261267.2:n.*289_*290insTTTTTTTTTTTT
NM_000239.2:c.*289_*290insTTTTTTTTTTTT , LRG_768t1:c.*289_*290insTTTTTTTTTTTT NP_000230.1:n.*289_*290insTTTTTTTTTTTT
NM_000239.3:c.*289_*290insTTTTTTTTTTTT MANE Select NP_000230.1:n.*289_*290insTTTTTTTTTTTT
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