Canonical Allele Identifier: CA2454879211

Gene: LAMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120469183_120469192delinsAGGCGGCGAC , CM000685.2:g.120469183_120469192delinsAGGCGGCGAC	GRCh38
NC_000023.10:g.119603038_119603047delinsAGGCGGCGAC , CM000685.1:g.119603038_119603047delinsAGGCGGCGAC	GRCh37
NC_000023.9:g.119487066_119487075delinsAGGCGGCGAC	NCBI36
NG_007995.1:g.5158_5167delinsGTCGCCGCCT , LRG_749:g.5158_5167delinsGTCGCCGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.-23_-14delinsGTCGCCGCCT	ENSP00000516464.1:n.-23_-14delinsGTCGCCGCCT
ENST00000200639.9:c.-23_-14delinsGTCGCCGCCT MANE Select	ENSP00000200639.4:n.-23_-14delinsGTCGCCGCCT
ENST00000200639.8:c.-23_-14delinsGTCGCCGCCT	ENSP00000200639.4:n.-23_-14delinsGTCGCCGCCT
ENST00000371335.4:c.-23_-14delinsGTCGCCGCCT	ENSP00000360386.4:n.-23_-14delinsGTCGCCGCCT
ENST00000434600.6:c.-23_-14delinsGTCGCCGCCT	ENSP00000408411.2:n.-23_-14delinsGTCGCCGCCT
NM_001122606.1:c.-23_-14delinsGTCGCCGCCT , LRG_749t3:c.-23_-14delinsGTCGCCGCCT	NP_001116078.1:n.-23_-14delinsGTCGCCGCCT
NM_002294.2:c.-23_-14delinsGTCGCCGCCT , LRG_749t1:c.-23_-14delinsGTCGCCGCCT	NP_002285.1:n.-23_-14delinsGTCGCCGCCT
NM_013995.2:c.-23_-14delinsGTCGCCGCCT , LRG_749t2:c.-23_-14delinsGTCGCCGCCT	NP_054701.1:n.-23_-14delinsGTCGCCGCCT
NM_002294.3:c.-23_-14delinsGTCGCCGCCT MANE Select	NP_002285.1:n.-23_-14delinsGTCGCCGCCT