Canonical Allele Identifier: CA10643263
Gene: LYZ HGNC NCBI

Linked Data

ClinVar Variation Id: 310339
ClinVar RCV Id: RCV000380175
dbSNP Id: rs71094709
gnomAD v2: 12-69747277-C-CTTTTTTTTTT
gnomAD v3: 12-69353497-C-CTTTTTTTTTT
gnomAD v4: 12-69353497-C-CTTTTTTTTTT
MyVariant Identifiers: chr12:g.69747279_69747288dupTTTTTTTTTT (hg19) chr12:g.69747277_69747278insTTTTTTTTTT (hg19) chr12:g.69353499_69353508dupTTTTTTTTTT (hg38) chr12:g.69353497_69353498insTTTTTTTTTT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.69353499_69353508dup , CM000674.2:g.69353499_69353508dup GRCh38
NC_000012.11:g.69747279_69747288dup , CM000674.1:g.69747279_69747288dup GRCh37
NC_000012.10:g.68033546_68033555dup NCBI36
NG_008195.1:g.10146_10155dup , LRG_768:g.10146_10155dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261267.7:c.*280_*289dup MANE Select ENSP00000261267.2:n.*280_*289dup
ENST00000261267.6:c.*280_*289dup ENSP00000261267.2:n.*280_*289dup
NM_000239.2:c.*280_*289dup , LRG_768t1:c.*280_*289dup NP_000230.1:n.*280_*289dup
NM_000239.3:c.*280_*289dup MANE Select NP_000230.1:n.*280_*289dup
Search 100 bp 5'
Search 100 bp 3'