Canonical Allele Identifier: CA2619795362

Gene: LYZ

Linked Data

• gnomAD v4: 12-69353493-C-CTTTATTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.69353493_69353494insTTTATTTTTTTTTT , CM000674.2:g.69353493_69353494insTTTATTTTTTTTTT	GRCh38
NC_000012.11:g.69747273_69747274insTTTATTTTTTTTTT , CM000674.1:g.69747273_69747274insTTTATTTTTTTTTT	GRCh37
NC_000012.10:g.68033540_68033541insTTTATTTTTTTTTT	NCBI36
NG_008195.1:g.10140_10141insTTTATTTTTTTTTT , LRG_768:g.10140_10141insTTTATTTTTTTTTT

Transcript Alleles

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