Canonical Allele Identifier: CA2694598829

Gene: LAMP2

Linked Data

• gnomAD v4: X-120469201-CGGCGGCGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120469202_120469210del , CM000685.2:g.120469202_120469210del	GRCh38
NC_000023.10:g.119603057_119603065del , CM000685.1:g.119603057_119603065del	GRCh37
NC_000023.9:g.119487085_119487093del	NCBI36
NG_007995.1:g.5140_5148del , LRG_749:g.5140_5148del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.-41_-33del	ENSP00000516464.1:n.-41_-33del
ENST00000200639.9:c.-41_-33del MANE Select	ENSP00000200639.4:n.-41_-33del
ENST00000200639.8:c.-41_-33del	ENSP00000200639.4:n.-41_-33del
ENST00000371335.4:c.-41_-33del	ENSP00000360386.4:n.-41_-33del
ENST00000434600.6:c.-41_-33del	ENSP00000408411.2:n.-41_-33del
NM_001122606.1:c.-41_-33del , LRG_749t3:c.-41_-33del	NP_001116078.1:n.-41_-33del
NM_002294.2:c.-41_-33del , LRG_749t1:c.-41_-33del	NP_002285.1:n.-41_-33del
NM_013995.2:c.-41_-33del , LRG_749t2:c.-41_-33del	NP_054701.1:n.-41_-33del
NM_002294.3:c.-41_-33del MANE Select	NP_002285.1:n.-41_-33del