Canonical Allele Identifier: CA691365058

Gene: LYZ

Linked Data

• dbSNP Id: rs1555173498
• gnomAD v3: 12-69353497-C-CTCTTTTTTTTT
• gnomAD v4: 12-69353497-C-CTCTTTTTTTTT
• MyVariant Identifiers: chr12:g.69747277_69747278insTCTTTTTTTTT (hg19) ; chr12:g.69353497_69353498insTCTTTTTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.69353498_69353499insCTTTTTTTTTT , CM000674.2:g.69353498_69353499insCTTTTTTTTTT	GRCh38
NC_000012.11:g.69747278_69747279insCTTTTTTTTTT , CM000674.1:g.69747278_69747279insCTTTTTTTTTT	GRCh37
NC_000012.10:g.68033545_68033546insCTTTTTTTTTT	NCBI36
NG_008195.1:g.10145_10146insCTTTTTTTTTT , LRG_768:g.10145_10146insCTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261267.7:c.*279_*280insCTTTTTTTTTT MANE Select	ENSP00000261267.2:n.*279_*280insCTTTTTTTTTT
ENST00000261267.6:c.*279_*280insCTTTTTTTTTT	ENSP00000261267.2:n.*279_*280insCTTTTTTTTTT
NM_000239.2:c.*279_*280insCTTTTTTTTTT , LRG_768t1:c.*279_*280insCTTTTTTTTTT	NP_000230.1:n.*279_*280insCTTTTTTTTTT
NM_000239.3:c.*279_*280insCTTTTTTTTTT MANE Select	NP_000230.1:n.*279_*280insCTTTTTTTTTT