Canonical Allele Identifier: CA166743500
Gene: LEP HGNC NCBI

Linked Data

dbSNP Id: rs553533124
gnomAD v2: 7-127887108-GAA-G
gnomAD v3: 7-128247055-GAA-G
gnomAD v4: 7-128247055-GAA-G
MyVariant Identifiers: chr7:g.127887109_127887110del (hg19) chr7:g.128247056_128247057del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128247056_128247057del , CM000669.2:g.128247056_128247057del GRCh38
NC_000007.13:g.127887109_127887110del , CM000669.1:g.127887109_127887110del GRCh37
NC_000007.12:g.127674345_127674346del NCBI36
NG_007450.1:g.10779_10780del

Transcript Alleles

HGVS Amino-acid change
ENST00000308868.5:c.-28-4935_-28-4934del MANE Select ENSP00000312652.4:n.-28-4935_-28-4934del
ENST00000308868.4:c.-28-4935_-28-4934del ENSP00000312652.4:n.-28-4935_-28-4934del
NM_000230.2:c.-28-4935_-28-4934del NP_000221.1:n.-28-4935_-28-4934del
XM_005250340.3:c.-28-4935_-28-4934del XP_005250397.1:n.-28-4935_-28-4934del
XM_005250340.5:c.-28-4935_-28-4934del XP_005250397.1:n.-28-4935_-28-4934del
NM_000230.3:c.-28-4935_-28-4934del MANE Select NP_000221.1:n.-28-4935_-28-4934del
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