Canonical Allele Identifier: CA238507170

Gene: LYZ

Linked Data

• dbSNP Id: rs547423383
• MyVariant Identifiers: chr12:g.69747273_69747274insCTTTTTTTTTTT (hg19) ; chr12:g.69353493_69353494insCTTTTTTTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.69353493_69353494insCTTTTTTTTTTT , CM000674.2:g.69353493_69353494insCTTTTTTTTTTT	GRCh38
NC_000012.11:g.69747273_69747274insCTTTTTTTTTTT , CM000674.1:g.69747273_69747274insCTTTTTTTTTTT	GRCh37
NC_000012.10:g.68033540_68033541insCTTTTTTTTTTT	NCBI36
NG_008195.1:g.10140_10141insCTTTTTTTTTTT , LRG_768:g.10140_10141insCTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261267.7:c.*274_*275insCTTTTTTTTTTT MANE Select	ENSP00000261267.2:n.*274_*275insCTTTTTTTTTTT
ENST00000261267.6:c.*274_*275insCTTTTTTTTTTT	ENSP00000261267.2:n.*274_*275insCTTTTTTTTTTT
ENST00000549690.1:c.*228_*229insCTTTTTTTTTTT	ENSP00000449898.1:n.*228_*229insCTTTTTTTTTTT
NM_000239.2:c.*274_*275insCTTTTTTTTTTT , LRG_768t1:c.*274_*275insCTTTTTTTTTTT	NP_000230.1:n.*274_*275insCTTTTTTTTTTT
NM_000239.3:c.*274_*275insCTTTTTTTTTTT MANE Select	NP_000230.1:n.*274_*275insCTTTTTTTTTTT