Canonical Allele Identifier: CA1239228340
Gene: POMC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25161663_25161678delinsGGGGTTCTCGGTCAGA , CM000664.2:g.25161663_25161678delinsGGGGTTCTCGGTCAGA GRCh38
NC_000002.11:g.25384532_25384547delinsGGGGTTCTCGGTCAGA , CM000664.1:g.25384532_25384547delinsGGGGTTCTCGGTCAGA GRCh37
NC_000002.10:g.25238036_25238051delinsGGGGTTCTCGGTCAGA NCBI36
NG_008997.1:g.12013_12028delinsTCTGACCGAGAACCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000395826.7:c.207_222delinsTCTGACCGAGAACCCC MANE Select ENSP00000379170.2:p.Pro69=
ENST00000264708.7:c.207_222delinsTCTGACCGAGAACCCC ENSP00000264708.3:p.Pro69=
ENST00000380794.5:c.207_222delinsTCTGACCGAGAACCCC ENSP00000370171.1:p.Pro69=
ENST00000395826.6:c.207_222delinsTCTGACCGAGAACCCC ENSP00000379170.2:p.Pro69=
ENST00000405623.5:c.207_222delinsTCTGACCGAGAACCCC ENSP00000384092.1:p.Pro69=
ENST00000449220.1:c.207_222delinsTCTGACCGAGAACCCC ENSP00000387993.1:p.Pro69=
NM_000939.2:c.207_222delinsTCTGACCGAGAACCCC NP_000930.1:p.Pro69=
NM_001035256.1:c.207_222delinsTCTGACCGAGAACCCC NP_001030333.1:p.Pro69=
XM_011532917.1:c.207_222delinsTCTGACCGAGAACCCC XP_011531219.1:p.Pro69=
NM_000939.3:c.207_222delinsTCTGACCGAGAACCCC NP_000930.1:p.Pro69=
NM_001035256.2:c.207_222delinsTCTGACCGAGAACCCC NP_001030333.1:p.Pro69=
NM_001319204.1:c.207_222delinsTCTGACCGAGAACCCC NP_001306133.1:p.Pro69=
NM_001319205.1:c.207_222delinsTCTGACCGAGAACCCC NP_001306134.1:p.Pro69=
NM_000939.4:c.207_222delinsTCTGACCGAGAACCCC MANE Select NP_000930.1:p.Pro69=
NM_001319204.2:c.207_222delinsTCTGACCGAGAACCCC NP_001306133.1:p.Pro69=
NM_001319205.2:c.207_222delinsTCTGACCGAGAACCCC NP_001306134.1:p.Pro69=
NM_001035256.3:c.207_222delinsTCTGACCGAGAACCCC NP_001030333.1:p.Pro69=