Canonical Allele Identifier: CA134125

Gene: LAMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120449063del , CM000685.2:g.120449063del	GRCh38
NC_000023.10:g.119582918del , CM000685.1:g.119582918del	GRCh37
NC_000023.9:g.119466946del	NCBI36
NG_007995.1:g.25287del , LRG_749:g.25287del

Transcript Alleles

HGVS	Amino-acid Change
NM_002294.3:c.463del MANE Select	NP_002285.1:p.Ser155ValfsTer28
ENST00000200639.9:c.463del MANE Select	ENSP00000200639.4:p.Ser155ValfsTer28
NM_001122606.1:c.463del , LRG_749t3:c.463del	NP_001116078.1:p.Ser155ValfsTer28
NM_002294.2:c.463del , LRG_749t1:c.463del	NP_002285.1:p.Ser155ValfsTer28
NM_013995.2:c.463del , LRG_749t2:c.463del	NP_054701.1:p.Ser155ValfsTer28
ENST00000200639.8:c.463del	ENSP00000200639.4:p.Ser155ValfsTer28
ENST00000371335.4:c.463del	ENSP00000360386.4:p.Ser155ValfsTer28
ENST00000434600.6:c.463del	ENSP00000408411.2:p.Ser155ValfsTer28
ENST00000486593.5:c.6del
ENST00000706600.1:c.463del	ENSP00000516464.1:p.Ser155ValfsTer28