Canonical Allele Identifier: CA1239233227
Gene: POMC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25167282_25167284delinsCAA , CM000664.2:g.25167282_25167284delinsCAA GRCh38
NC_000002.11:g.25390151_25390153delinsCAA , CM000664.1:g.25390151_25390153delinsCAA GRCh37
NC_000002.10:g.25243655_25243657delinsCAA NCBI36
NG_008997.1:g.6407_6409delinsTTG

Transcript Alleles

HGVS Amino-acid change
ENST00000395826.7:c.-21+1214_-21+1216delinsTTG MANE Select ENSP00000379170.2:n.-21+1214_-21+1216deli...
ENST00000264708.7:c.-101+1214_-101+1216delinsTTG ENSP00000264708.3:n.-101+1214_-101+1216de...
ENST00000380794.5:c.-71+1214_-71+1216delinsTTG ENSP00000370171.1:n.-71+1214_-71+1216deli...
ENST00000395826.6:c.-21+1214_-21+1216delinsTTG ENSP00000379170.2:n.-21+1214_-21+1216deli...
ENST00000405623.5:c.-51+1214_-51+1216delinsTTG ENSP00000384092.1:n.-51+1214_-51+1216deli...
ENST00000449220.1:c.-71+1214_-71+1216delinsTTG ENSP00000387993.1:n.-71+1214_-71+1216deli...
NM_000939.2:c.-21+1214_-21+1216delinsTTG NP_000930.1:n.-21+1214_-21+1216delinsTTG
NM_001035256.1:c.-71+1214_-71+1216delinsTTG NP_001030333.1:n.-71+1214_-71+1216delinsT...
XM_011532917.1:c.-51+1214_-51+1216delinsTTG XP_011531219.1:n.-51+1214_-51+1216delinsT...
NM_000939.3:c.-21+1214_-21+1216delinsTTG NP_000930.1:n.-21+1214_-21+1216delinsTTG
NM_001035256.2:c.-71+1214_-71+1216delinsTTG NP_001030333.1:n.-71+1214_-71+1216delinsT...
NM_001319204.1:c.-101+1214_-101+1216delinsTTG NP_001306133.1:n.-101+1214_-101+1216delin...
NM_001319205.1:c.-51+1214_-51+1216delinsTTG NP_001306134.1:n.-51+1214_-51+1216delinsT...
NM_000939.4:c.-21+1214_-21+1216delinsTTG MANE Select NP_000930.1:n.-21+1214_-21+1216delinsTTG
NM_001319204.2:c.-101+1214_-101+1216delinsTTG NP_001306133.1:n.-101+1214_-101+1216delin...
NM_001319205.2:c.-51+1214_-51+1216delinsTTG NP_001306134.1:n.-51+1214_-51+1216delinsT...
NM_001035256.3:c.-71+1214_-71+1216delinsTTG NP_001030333.1:n.-71+1214_-71+1216delinsT...