Canonical Allele Identifier: CA2044300958

Gene: LYZ

Linked Data

• dbSNP Id: rs753762306
• gnomAD v4: 12-69353497-C-CCTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.69353497_69353498insCTTTTTTTTTTTTT , CM000674.2:g.69353497_69353498insCTTTTTTTTTTTTT	GRCh38
NC_000012.11:g.69747277_69747278insCTTTTTTTTTTTTT , CM000674.1:g.69747277_69747278insCTTTTTTTTTTTTT	GRCh37
NC_000012.10:g.68033544_68033545insCTTTTTTTTTTTTT	NCBI36
NG_008195.1:g.10144_10145insCTTTTTTTTTTTTT , LRG_768:g.10144_10145insCTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261267.7:c.*278_*279insCTTTTTTTTTTTTT MANE Select	ENSP00000261267.2:n.*278_*279insCTTTTTTTTTTTTT
ENST00000261267.6:c.*278_*279insCTTTTTTTTTTTTT	ENSP00000261267.2:n.*278_*279insCTTTTTTTTTTTTT
NM_000239.2:c.*278_*279insCTTTTTTTTTTTTT , LRG_768t1:c.*278_*279insCTTTTTTTTTTTTT	NP_000230.1:n.*278_*279insCTTTTTTTTTTTTT
NM_000239.3:c.*278_*279insCTTTTTTTTTTTTT MANE Select	NP_000230.1:n.*278_*279insCTTTTTTTTTTTTT