Canonical Allele Identifier: CA577933777
Gene: LEP HGNC NCBI

Linked Data

dbSNP Id: rs1330410022
gnomAD v2: 7-127888732-AC-A
gnomAD v3: 7-128248679-AC-A
gnomAD v4: 7-128248679-AC-A
MyVariant Identifiers: chr7:g.127888733del (hg19) chr7:g.128248680del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128248680del , CM000669.2:g.128248680del GRCh38
NC_000007.13:g.127888733del , CM000669.1:g.127888733del GRCh37
NC_000007.12:g.127675969del NCBI36
NG_007450.1:g.12403del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308868.5:c.-28-3311del MANE Select ENSP00000312652.4:n.-28-3311del
ENST00000308868.4:c.-28-3311del ENSP00000312652.4:n.-28-3311del
NM_000230.2:c.-28-3311del NP_000221.1:n.-28-3311del
XM_005250340.3:c.-28-3311del XP_005250397.1:n.-28-3311del
XM_005250340.5:c.-28-3311del XP_005250397.1:n.-28-3311del
NM_000230.3:c.-28-3311del MANE Select NP_000221.1:n.-28-3311del
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