Canonical Allele Identifier: CA1239233237
Gene: POMC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25167290_25167291delinsAT , CM000664.2:g.25167290_25167291delinsAT GRCh38
NC_000002.11:g.25390159_25390160delinsAT , CM000664.1:g.25390159_25390160delinsAT GRCh37
NC_000002.10:g.25243663_25243664delinsAT NCBI36
NG_008997.1:g.6400_6401delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000395826.7:c.-21+1207_-21+1208delinsAT MANE Select ENSP00000379170.2:n.-21+1207_-21+1208deli...
ENST00000264708.7:c.-101+1207_-101+1208delinsAT ENSP00000264708.3:n.-101+1207_-101+1208de...
ENST00000380794.5:c.-71+1207_-71+1208delinsAT ENSP00000370171.1:n.-71+1207_-71+1208deli...
ENST00000395826.6:c.-21+1207_-21+1208delinsAT ENSP00000379170.2:n.-21+1207_-21+1208deli...
ENST00000405623.5:c.-51+1207_-51+1208delinsAT ENSP00000384092.1:n.-51+1207_-51+1208deli...
ENST00000449220.1:c.-71+1207_-71+1208delinsAT ENSP00000387993.1:n.-71+1207_-71+1208deli...
NM_000939.2:c.-21+1207_-21+1208delinsAT NP_000930.1:n.-21+1207_-21+1208delinsAT
NM_001035256.1:c.-71+1207_-71+1208delinsAT NP_001030333.1:n.-71+1207_-71+1208delinsA...
XM_011532917.1:c.-51+1207_-51+1208delinsAT XP_011531219.1:n.-51+1207_-51+1208delinsA...
NM_000939.3:c.-21+1207_-21+1208delinsAT NP_000930.1:n.-21+1207_-21+1208delinsAT
NM_001035256.2:c.-71+1207_-71+1208delinsAT NP_001030333.1:n.-71+1207_-71+1208delinsA...
NM_001319204.1:c.-101+1207_-101+1208delinsAT NP_001306133.1:n.-101+1207_-101+1208delin...
NM_001319205.1:c.-51+1207_-51+1208delinsAT NP_001306134.1:n.-51+1207_-51+1208delinsA...
NM_000939.4:c.-21+1207_-21+1208delinsAT MANE Select NP_000930.1:n.-21+1207_-21+1208delinsAT
NM_001319204.2:c.-101+1207_-101+1208delinsAT NP_001306133.1:n.-101+1207_-101+1208delin...
NM_001319205.2:c.-51+1207_-51+1208delinsAT NP_001306134.1:n.-51+1207_-51+1208delinsA...
NM_001035256.3:c.-71+1207_-71+1208delinsAT NP_001030333.1:n.-71+1207_-71+1208delinsA...