Canonical Allele Identifier: CA2579692124

Gene: LAMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120442578_120442579del , CM000685.2:g.120442578_120442579del	GRCh38
NC_000023.10:g.119576433_119576434del , CM000685.1:g.119576433_119576434del	GRCh37
NC_000023.9:g.119460461_119460462del	NCBI36
NG_007995.1:g.31773_31774del , LRG_749:g.31773_31774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.928+22_928+23del	ENSP00000516464.1:n.928+22_928+23del
ENST00000200639.9:c.928+22_928+23del MANE Select	ENSP00000200639.4:n.928+22_928+23del
ENST00000200639.8:c.928+22_928+23del	ENSP00000200639.4:n.928+22_928+23del
ENST00000371335.4:c.928+22_928+23del	ENSP00000360386.4:n.928+22_928+23del
ENST00000434600.6:c.928+22_928+23del	ENSP00000408411.2:n.928+22_928+23del
ENST00000486593.5:c.471+22_471+23del
NM_001122606.1:c.928+22_928+23del , LRG_749t3:c.928+22_928+23del	NP_001116078.1:n.928+22_928+23del
NM_002294.2:c.928+22_928+23del , LRG_749t1:c.928+22_928+23del	NP_002285.1:n.928+22_928+23del
NM_013995.2:c.928+22_928+23del , LRG_749t2:c.928+22_928+23del	NP_054701.1:n.928+22_928+23del
NM_002294.3:c.928+22_928+23del MANE Select	NP_002285.1:n.928+22_928+23del