Canonical Allele Identifier: CA1239226527
Gene: POMC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25160854_25160857delinsCTGT , CM000664.2:g.25160854_25160857delinsCTGT GRCh38
NC_000002.11:g.25383723_25383726delinsCTGT , CM000664.1:g.25383723_25383726delinsCTGT GRCh37
NC_000002.10:g.25237227_25237230delinsCTGT NCBI36
NG_008997.1:g.12834_12837delinsACAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000380794.5:c.*224_*227delinsACAG ENSP00000370171.1:n.*224_*227delinsACAG
NM_000939.2:c.*224_*227delinsACAG NP_000930.1:n.*224_*227delinsACAG
NM_001035256.1:c.*224_*227delinsACAG NP_001030333.1:n.*224_*227delinsACAG
NM_000939.3:c.*224_*227delinsACAG NP_000930.1:n.*224_*227delinsACAG
NM_001035256.2:c.*224_*227delinsACAG NP_001030333.1:n.*224_*227delinsACAG
NM_001319204.1:c.*224_*227delinsACAG NP_001306133.1:n.*224_*227delinsACAG
NM_001319205.1:c.*224_*227delinsACAG NP_001306134.1:n.*224_*227delinsACAG
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