Canonical Allele Identifier: CA948901395

Gene: LYZ

Linked Data

• gnomAD v3: 12-69353497-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 12-69353497-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.69353508_69353509insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000674.2:g.69353508_69353509insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000012.11:g.69747288_69747289insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000674.1:g.69747288_69747289insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000012.10:g.68033555_68033556insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_008195.1:g.10155_10156insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_768:g.10155_10156insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

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