Canonical Allele Identifier: CA948901393

Gene: LYZ

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.69353508_69353509insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000674.2:g.69353508_69353509insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000012.11:g.69747288_69747289insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000674.1:g.69747288_69747289insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000012.10:g.68033555_68033556insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_008195.1:g.10155_10156insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_768:g.10155_10156insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

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