Canonical Allele Identifier: CA2695235722

Gene: LAMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120449078_120449082del , CM000685.2:g.120449078_120449082del	GRCh38
NC_000023.10:g.119582933_119582937del , CM000685.1:g.119582933_119582937del	GRCh37
NC_000023.9:g.119466961_119466965del	NCBI36
NG_007995.1:g.25269_25273del , LRG_749:g.25269_25273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.445_449del	ENSP00000516464.1:p.Asp149PhefsTer2
ENST00000200639.9:c.445_449del MANE Select	ENSP00000200639.4:p.Asp149PhefsTer2
ENST00000200639.8:c.445_449del	ENSP00000200639.4:p.Asp149PhefsTer2
ENST00000371335.4:c.445_449del	ENSP00000360386.4:p.Asp149PhefsTer2
ENST00000434600.6:c.445_449del	ENSP00000408411.2:p.Asp149PhefsTer2
NM_001122606.1:c.445_449del , LRG_749t3:c.445_449del	NP_001116078.1:p.Asp149PhefsTer2
NM_002294.2:c.445_449del , LRG_749t1:c.445_449del	NP_002285.1:p.Asp149PhefsTer2
NM_013995.2:c.445_449del , LRG_749t2:c.445_449del	NP_054701.1:p.Asp149PhefsTer2
NM_002294.3:c.445_449del MANE Select	NP_002285.1:p.Asp149PhefsTer2