Canonical Allele Identifier: CA2454872875

Gene: LAMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120448074_120448078delinsAATTC , CM000685.2:g.120448074_120448078delinsAATTC	GRCh38
NC_000023.10:g.119581929_119581933delinsAATTC , CM000685.1:g.119581929_119581933delinsAATTC	GRCh37
NC_000023.9:g.119465957_119465961delinsAATTC	NCBI36
NG_007995.1:g.26272_26276delinsGAATT , LRG_749:g.26272_26276delinsGAATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.557-53_557-49delinsGAATT	ENSP00000516464.1:n.557-53_557-49delinsGAATT
ENST00000200639.9:c.557-53_557-49delinsGAATT MANE Select	ENSP00000200639.4:n.557-53_557-49delinsGAATT
ENST00000200639.8:c.557-53_557-49delinsGAATT	ENSP00000200639.4:n.557-53_557-49delinsGAATT
ENST00000371335.4:c.557-53_557-49delinsGAATT	ENSP00000360386.4:n.557-53_557-49delinsGAATT
ENST00000434600.6:c.557-53_557-49delinsGAATT	ENSP00000408411.2:n.557-53_557-49delinsGAATT
ENST00000486593.5:c.100-53_100-49delinsGAATT
NM_001122606.1:c.557-53_557-49delinsGAATT , LRG_749t3:c.557-53_557-49delinsGAATT	NP_001116078.1:n.557-53_557-49delinsGAATT
NM_002294.2:c.557-53_557-49delinsGAATT , LRG_749t1:c.557-53_557-49delinsGAATT	NP_002285.1:n.557-53_557-49delinsGAATT
NM_013995.2:c.557-53_557-49delinsGAATT , LRG_749t2:c.557-53_557-49delinsGAATT	NP_054701.1:n.557-53_557-49delinsGAATT
NM_002294.3:c.557-53_557-49delinsGAATT MANE Select	NP_002285.1:n.557-53_557-49delinsGAATT