Canonical Allele Identifier: CA43684074
Gene: POMC HGNC NCBI

Linked Data

dbSNP Id: rs777983882
gnomAD v3: 2-25160854-CTGT-C
gnomAD v4: 2-25160854-CTGT-C
MyVariant Identifiers: chr2:g.25383724_25383726del (hg19) chr2:g.25160855_25160857del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25160856_25160858del , CM000664.2:g.25160856_25160858del GRCh38
NC_000002.11:g.25383725_25383727del , CM000664.1:g.25383725_25383727del GRCh37
NC_000002.10:g.25237229_25237231del NCBI36
NG_008997.1:g.12834_12836del

Transcript Alleles

HGVS Amino-acid change
ENST00000380794.5:c.*224_*226del ENSP00000370171.1:n.*224_*226del
NM_000939.2:c.*224_*226del NP_000930.1:n.*224_*226del
NM_001035256.1:c.*224_*226del NP_001030333.1:n.*224_*226del
NM_000939.3:c.*224_*226del NP_000930.1:n.*224_*226del
NM_001035256.2:c.*224_*226del NP_001030333.1:n.*224_*226del
NM_001319204.1:c.*224_*226del NP_001306133.1:n.*224_*226del
NM_001319205.1:c.*224_*226del NP_001306134.1:n.*224_*226del
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