Canonical Allele Identifier: CA2619793930
Gene: LYZ HGNC NCBI

Linked Data

gnomAD v4: 12-69350127-GGA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.69350131_69350132del , CM000674.2:g.69350131_69350132del GRCh38
NC_000012.11:g.69743911_69743912del , CM000674.1:g.69743911_69743912del GRCh37
NC_000012.10:g.68030178_68030179del NCBI36
NG_008195.1:g.6778_6779del , LRG_768:g.6778_6779del

Transcript Alleles

HGVS Amino-acid change
ENST00000261267.7:c.160_161del MANE Select ENSP00000261267.2:p.Ser54TrpfsTer17
ENST00000261267.6:c.160_161del ENSP00000261267.2:p.Ser54TrpfsTer17
ENST00000548839.1:c.160_161del ENSP00000449969.1:p.Ser54TrpfsTer17
ENST00000549690.1:c.160_161del ENSP00000449898.1:p.Ser54TrpfsTer17
NM_000239.2:c.160_161del , LRG_768t1:c.160_161del NP_000230.1:p.Ser54TrpfsTer17
NM_000239.3:c.160_161del MANE Select NP_000230.1:p.Ser54TrpfsTer17
Search 100 bp 5'
Search 100 bp 3'