Canonical Allele Identifier: CA691365047
Gene: LYZ HGNC NCBI

Linked Data

dbSNP Id: rs71094709
gnomAD v3: 12-69353497-C-CTTT
gnomAD v4: 12-69353497-C-CTTT
MyVariant Identifiers: chr12:g.69747277_69747278insTTT (hg19) chr12:g.69353497_69353498insTTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.69353506_69353508dup , CM000674.2:g.69353506_69353508dup GRCh38
NC_000012.11:g.69747286_69747288dup , CM000674.1:g.69747286_69747288dup GRCh37
NC_000012.10:g.68033553_68033555dup NCBI36
NG_008195.1:g.10153_10155dup , LRG_768:g.10153_10155dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261267.7:c.*287_*289dup MANE Select ENSP00000261267.2:n.*287_*289dup
ENST00000261267.6:c.*287_*289dup ENSP00000261267.2:n.*287_*289dup
NM_000239.2:c.*287_*289dup , LRG_768t1:c.*287_*289dup NP_000230.1:n.*287_*289dup
NM_000239.3:c.*287_*289dup MANE Select NP_000230.1:n.*287_*289dup
Search 100 bp 5'
Search 100 bp 3'