Canonical Allele Identifier: CA2749203930
Gene: POMC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25160859_25160862del , CM000664.2:g.25160859_25160862del GRCh38
NC_000002.11:g.25383728_25383731del , CM000664.1:g.25383728_25383731del GRCh37
NC_000002.10:g.25237232_25237235del NCBI36
NG_008997.1:g.12831_12834del

Transcript Alleles

HGVS Amino-acid change
ENST00000380794.5:c.*221_*224del ENSP00000370171.1:n.*221_*224del
NM_000939.2:c.*221_*224del NP_000930.1:n.*221_*224del
NM_001035256.1:c.*221_*224del NP_001030333.1:n.*221_*224del
NM_000939.3:c.*221_*224del NP_000930.1:n.*221_*224del
NM_001035256.2:c.*221_*224del NP_001030333.1:n.*221_*224del
NM_001319204.1:c.*221_*224del NP_001306133.1:n.*221_*224del
NM_001319205.1:c.*221_*224del NP_001306134.1:n.*221_*224del
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